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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P D V K P A F S S Y S V Q V G Q D L K I E V P I S G R P K P T I T W T K D G L P L K Q T T R I N V T D S L D L T T L S I K E T H K D D G G Q Y G I T V A N V V G Q K T A S I E I V T L D K P D P P K G P V K F D D V S A E S I T L S W N P P L Y T G G C Q I T N Y I V Q K R D T T T T V W D V V S A T V A R T T L K V T K L K T G T E Y Q F R I F A E N R Y G Q S F A L E S D P I V A Q Y P
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - K P D P P K G P V K F D D V S A E S I T L S W N P P L Y T G G C Q I T N Y I V Q K R D T T T T V W D V V S A T V A R T T L K V T K L K T G T E Y Q F R I F A E N R Y G Q S F A L E S D P I V A Q Y -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25891 2 P/H 2 rs766099071 0.0994 None gnomAD-4.0.0 2.73758E-06
25891 2 P/L 2 rs766099071 0.0994 None gnomAD-4.0.0 1.43723E-05
25891 2 P/R 2 None 0.0994 None gnomAD-4.0.0 6.84396E-07
25891 2 P/S 2 None 0.0994 None gnomAD-4.0.0 6.84387E-07
25891 2 P/T 2 rs1214607347 0.0994 None gnomAD-2.1.1 4.03E-06
25891 2 P/T 2 rs1214607347 0.0994 None gnomAD-4.0.0 2.73755E-06
25892 3 D/V 3 None 0.3799 None gnomAD-4.0.0 1.20032E-06
25893 4 P/L 4 None 0.2911 None gnomAD-4.0.0 2.0532E-06
25893 4 P/R 4 None 0.2911 None gnomAD-4.0.0 6.84399E-07
25893 4 P/S 4 rs1462410139 0.2911 None gnomAD-2.1.1 2.01E-05
25893 4 P/S 4 rs1462410139 0.2911 None gnomAD-3.1.2 9.21E-05
25893 4 P/S 4 rs1462410139 0.2911 None gnomAD-4.0.0 2.43573E-05
25894 5 P/S 5 None 0.1182 None gnomAD-4.0.0 1.20032E-06
25895 6 K/E 6 rs1706799678 0.5615 None gnomAD-4.0.0 1.59231E-06
25895 6 K/T 6 rs751395038 0.5615 None gnomAD-2.1.1 4.03E-06
25895 6 K/T 6 rs751395038 0.5615 None gnomAD-4.0.0 3.18459E-06
25896 7 G/V 7 rs766283033 0.4161 None gnomAD-2.1.1 4.43E-05
25896 7 G/V 7 rs766283033 0.4161 None gnomAD-4.0.0 1.11464E-05
25897 8 P/T 8 rs370103639 0.7703 None gnomAD-2.1.1 4.03E-06
25897 8 P/T 8 rs370103639 0.7703 None gnomAD-4.0.0 3.18475E-06
25899 10 K/E 11 rs1466717136 0.6484 None gnomAD-3.1.2 6.57E-06
25899 10 K/E 11 rs1466717136 0.6484 None gnomAD-4.0.0 3.84574E-06
25899 10 K/I 11 rs750227997 0.6484 None gnomAD-2.1.1 4.03E-06
25899 10 K/I 11 rs750227997 0.6484 None gnomAD-4.0.0 3.1848E-06
25900 11 F/S 12 rs1189958133 0.2766 None gnomAD-3.1.2 6.58E-06
25900 11 F/S 12 rs1189958133 0.2766 None gnomAD-4.0.0 6.57618E-06
25901 12 D/E 13 rs765603724 0.5206 None gnomAD-2.1.1 7.15E-06
25901 12 D/E 13 rs765603724 0.5206 None gnomAD-3.1.2 6.57E-06
25901 12 D/E 13 rs765603724 0.5206 None gnomAD-4.0.0 3.04506E-06
25902 13 D/E 14 None 0.5023 None gnomAD-4.0.0 2.05335E-06
25902 13 D/N 14 None 0.5023 None gnomAD-4.0.0 1.20032E-06
25902 13 D/V 14 None 0.5023 None gnomAD-4.0.0 1.59245E-06
25903 14 V/D 15 rs764027734 0.3036 None gnomAD-2.1.1 1.21E-05
25903 14 V/D 15 rs764027734 0.3036 None gnomAD-4.0.0 1.27397E-05
25903 14 V/G 15 None 0.3036 None gnomAD-4.0.0 1.59247E-06
25903 14 V/I 15 rs570615498 0.3036 None gnomAD-2.1.1 1.46659E-04
25903 14 V/I 15 rs570615498 0.3036 None gnomAD-3.1.2 8.55E-05
25903 14 V/I 15 rs570615498 0.3036 None 1000 genomes 1.99681E-04
25903 14 V/I 15 rs570615498 0.3036 None gnomAD-4.0.0 8.80262E-05
25903 14 V/L 15 None 0.3036 None gnomAD-4.0.0 1.36888E-06
25904 15 S/R 16 None 0.1725 None gnomAD-4.0.0 2.40065E-06
25905 16 A/T 17 rs1019296317 0.1662 None gnomAD-2.1.1 6.37E-05
25905 16 A/T 17 rs1019296317 0.1662 None gnomAD-3.1.2 2.63E-05
25905 16 A/T 17 rs1019296317 0.1662 None gnomAD-4.0.0 6.41029E-06
25906 17 E/K 18 rs56341835 0.6506 None gnomAD-2.1.1 5.61713E-04
25906 17 E/K 18 rs56341835 0.6506 None gnomAD-3.1.2 5.91895E-04
25906 17 E/K 18 rs56341835 0.6506 None 1000 genomes 1.99681E-04
25906 17 E/K 18 rs56341835 0.6506 None gnomAD-4.0.0 8.38711E-04
25907 18 S/N 19 None 0.1783 None gnomAD-4.0.0 1.59253E-06
25908 19 I/N 20 None 0.0851 None gnomAD-4.0.0 9.5822E-06
25908 19 I/V 20 None 0.0851 None gnomAD-4.0.0 1.20033E-06
25909 20 T/A 21 None 0.1806 None gnomAD-4.0.0 6.84454E-07
25909 20 T/P 21 None 0.1806 None gnomAD-4.0.0 1.36891E-06
25911 22 S/Y 23 rs772557856 0.1788 None gnomAD-2.1.1 4.03E-06
25911 22 S/Y 23 rs772557856 0.1788 None gnomAD-4.0.0 1.50582E-05
25912 23 W/C 24 rs759946219 0.1182 None gnomAD-2.1.1 4.03E-06
25912 23 W/C 24 rs759946219 0.1182 None gnomAD-4.0.0 1.59264E-06
25913 24 N/I 25 None 0.5070 None gnomAD-4.0.0 1.59264E-06
25913 24 N/K 25 None 0.5070 None gnomAD-4.0.0 1.20033E-06
25914 25 P/R 26 rs774671830 0.4548 None gnomAD-2.1.1 4.03E-06
25914 25 P/R 26 rs774671830 0.4548 None gnomAD-4.0.0 1.59268E-06
25914 25 P/S 26 None 0.4548 None gnomAD-4.0.0 1.20033E-06
25917 28 Y/H 29 rs370137092 0.2580 None gnomAD-2.1.1 3.63E-05
25917 28 Y/H 29 rs370137092 0.2580 None gnomAD-3.1.2 6.57E-05
25917 28 Y/H 29 rs370137092 0.2580 None gnomAD-4.0.0 5.14524E-05
25918 29 T/I 30 rs1484655947 0.3034 None gnomAD-2.1.1 8.06E-06
25918 29 T/I 30 rs1484655947 0.3034 None gnomAD-4.0.0 1.64272E-05
25918 29 T/R 30 None 0.3034 None gnomAD-4.0.0 6.84466E-07
25919 30 G/A 31 rs1706772581 0.0699 None gnomAD-3.1.2 6.58E-06
25919 30 G/A 31 rs1706772581 0.0699 None gnomAD-4.0.0 6.57817E-06
25919 30 G/R 31 rs1243412494 0.0699 None gnomAD-2.1.1 4.03E-06
25919 30 G/R 31 rs1243412494 0.0699 None gnomAD-4.0.0 6.84448E-07
25919 30 G/W 31 None 0.0699 None gnomAD-4.0.0 3.42224E-06
25920 31 G/A 32 rs1215844222 0.3366 None gnomAD-2.1.1 4.03E-06
25920 31 G/A 32 rs1215844222 0.3366 None gnomAD-4.0.0 1.59247E-06
25920 31 G/D 32 None 0.3366 None gnomAD-4.0.0 1.59247E-06
25922 33 Q/R 34 None 0.8481 None gnomAD-4.0.0 1.20032E-06
25923 34 I/M 35 rs780766847 0.1962 None gnomAD-2.1.1 4.03E-06
25923 34 I/M 35 rs780766847 0.1962 None gnomAD-4.0.0 6.84418E-07
25923 34 I/T 35 rs1706767916 0.1962 None gnomAD-3.1.2 6.57E-06
25923 34 I/T 35 rs1706767916 0.1962 None gnomAD-4.0.0 6.5741E-06
25925 36 N/T 37 rs1048567784 0.1780 None gnomAD-2.1.1 4.03E-06
25925 36 N/T 37 rs1048567784 0.1780 None gnomAD-4.0.0 3.18464E-06
25926 37 Y/C 38 rs1706759391 0.1167 None gnomAD-3.1.2 6.58E-06
25926 37 Y/C 38 rs1706759391 0.1167 None gnomAD-4.0.0 5.12655E-06
25926 37 Y/H 38 rs767986866 0.1167 None gnomAD-2.1.1 1.21E-05
25926 37 Y/H 38 rs767986866 0.1167 None gnomAD-3.1.2 6.57E-06
25926 37 Y/H 38 rs767986866 0.1167 None gnomAD-4.0.0 6.19864E-06
25927 38 I/L 39 rs780196850 0.1666 None gnomAD-2.1.1 1.79E-05
25927 38 I/L 39 rs780196850 0.1666 None gnomAD-3.1.2 1.31E-05
25927 38 I/L 39 rs780196850 0.1666 None gnomAD-4.0.0 4.52491E-05
25927 38 I/M 39 rs1226545466 0.1666 None gnomAD-2.1.1 8.05E-06
25927 38 I/M 39 rs1226545466 0.1666 None gnomAD-3.1.2 6.57E-06
25927 38 I/M 39 rs1226545466 0.1666 None gnomAD-4.0.0 1.11574E-05
25927 38 I/T 39 rs905403082 0.1666 None gnomAD-2.1.1 4.03E-06
25927 38 I/T 39 rs905403082 0.1666 None gnomAD-4.0.0 2.05314E-06
25927 38 I/V 39 rs780196850 0.1666 None gnomAD-2.1.1 2.14E-05
25927 38 I/V 39 rs780196850 0.1666 None gnomAD-3.1.2 2.63E-05
25927 38 I/V 39 rs780196850 0.1666 None gnomAD-4.0.0 1.98352E-05
25928 39 V/I 40 None 0.0985 None gnomAD-4.0.0 2.40064E-06
25929 40 Q/E 41 rs758386212 0.1622 None gnomAD-2.1.1 4.03E-06
25929 40 Q/E 41 rs758386212 0.1622 None gnomAD-4.0.0 2.05317E-06
25929 40 Q/H 41 rs1435821903 0.1622 None gnomAD-2.1.1 4.02E-06
25929 40 Q/H 41 rs1435821903 0.1622 None gnomAD-4.0.0 1.5922E-06
25929 40 Q/R 41 rs750283007 0.1622 None gnomAD-2.1.1 7.15E-06
25929 40 Q/R 41 rs750283007 0.1622 None gnomAD-3.1.2 6.57E-06
25929 40 Q/R 41 rs750283007 0.1622 None gnomAD-4.0.0 2.56345E-06
25930 41 K/E 42 rs1706751422 0.2890 None gnomAD-3.1.2 6.57E-06
25930 41 K/E 42 rs1706751422 0.2890 None gnomAD-4.0.0 3.045E-06
25930 41 K/T 42 rs397517711 0.2890 None gnomAD-4.0.0 1.59218E-06
25932 43 D/E 44 None 0.2812 None gnomAD-4.0.0 1.36874E-06
25932 43 D/G 44 None 0.2812 None gnomAD-4.0.0 1.59211E-06
25932 43 D/N 44 rs778532395 0.2812 None gnomAD-2.1.1 1.21E-05
25932 43 D/N 44 rs778532395 0.2812 None gnomAD-4.0.0 2.73748E-06
25932 43 D/Y 44 None 0.2812 None gnomAD-4.0.0 6.8437E-07
25933 44 T/K 50 rs1475741583 0.2871 None gnomAD-3.1.2 6.58E-06
25933 44 T/K 50 rs1475741583 0.2871 None gnomAD-4.0.0 2.47943E-06
25935 46 T/S 60 None 0.3167 None gnomAD-4.0.0 1.20032E-06
25936 47 T/R 63 rs533763128 0.8006 None gnomAD-3.1.2 6.58E-06
25936 47 T/R 63 rs533763128 0.8006 None 1000 genomes 1.99681E-04
25936 47 T/R 63 rs533763128 0.8006 None gnomAD-4.0.0 6.56996E-06
25937 48 V/A 64 None 0.6433 None gnomAD-4.0.0 1.59202E-06
25937 48 V/I 64 None 0.6433 None gnomAD-4.0.0 3.18408E-06
25938 49 W/R 65 rs1052501136 0.2142 None gnomAD-2.1.1 8.05E-06
25938 49 W/R 65 rs1052501136 0.2142 None gnomAD-3.1.2 6.57E-06
25938 49 W/R 65 rs1052501136 0.2142 None gnomAD-4.0.0 6.84346E-07
25938 49 W/S 65 rs186681106 0.2142 None gnomAD-2.1.1 6.46692E-04
25938 49 W/S 65 rs186681106 0.2142 None gnomAD-3.1.2 1.20991E-03
25938 49 W/S 65 rs186681106 0.2142 None 1000 genomes 1.59744E-03
25938 49 W/S 65 rs186681106 0.2142 None gnomAD-4.0.0 3.59481E-04
25939 50 D/A 66 rs397517712 0.5925 None gnomAD-2.1.1 2.14E-05
25939 50 D/A 66 rs397517712 0.5925 None gnomAD-3.1.2 3.29E-05
25939 50 D/A 66 rs397517712 0.5925 None gnomAD-4.0.0 4.71075E-05
25939 50 D/E 66 None 0.5925 None gnomAD-4.0.0 6.84336E-07
25940 51 V/I 67 None 0.4519 None gnomAD-4.0.0 1.59195E-06
25941 52 V/I 68 rs928158833 0.3004 None gnomAD-3.1.2 6.58E-06
25941 52 V/I 68 rs928158833 0.3004 None gnomAD-4.0.0 3.04526E-06
25944 55 T/A 75 None 0.7410 None gnomAD-4.0.0 1.59192E-06
25945 56 V/A 77 rs1266064359 0.1360 None gnomAD-2.1.1 8.04E-06
25945 56 V/A 77 rs1266064359 0.1360 None gnomAD-3.1.2 6.58E-06
25945 56 V/A 77 rs1266064359 0.1360 None gnomAD-4.0.0 6.81817E-06
25946 57 A/T 83 rs1559369489 0.5963 None gnomAD-4.0.0 4.79048E-06
25946 57 A/V 83 rs1706728801 0.5963 None gnomAD-3.1.2 6.58E-06
25946 57 A/V 83 rs1706728801 0.5963 None gnomAD-4.0.0 6.57644E-06
25947 58 R/G 88 rs369737926 0.7405 None gnomAD-2.1.1 4.02E-06
25947 58 R/G 88 rs369737926 0.7405 None gnomAD-4.0.0 3.60098E-06
25947 58 R/S 88 rs1706725757 0.7405 None gnomAD-3.1.2 6.57E-06
25947 58 R/S 88 rs1706725757 0.7405 None gnomAD-4.0.0 3.09903E-06
25949 60 T/I 90 rs1706723806 0.3575 None gnomAD-3.1.2 6.58E-06
25949 60 T/I 90 rs1706723806 0.3575 None gnomAD-4.0.0 6.57523E-06
25950 61 L/F 91 rs376814602 0.2362 None gnomAD-2.1.1 1.74974E-04
25950 61 L/F 91 rs376814602 0.2362 None gnomAD-3.1.2 1.97285E-04
25950 61 L/F 91 rs376814602 0.2362 None 1000 genomes 5.99042E-04
25950 61 L/F 91 rs376814602 0.2362 None gnomAD-4.0.0 6.44565E-05
25950 61 L/I 91 None 0.2362 None gnomAD-4.0.0 6.84317E-07
25950 61 L/V 91 rs376814602 0.2362 None gnomAD-2.1.1 4.02E-06
25950 61 L/V 91 rs376814602 0.2362 None gnomAD-4.0.0 2.05295E-06
25952 63 V/A 93 None 0.1441 None gnomAD-4.0.0 1.59176E-06
25954 65 K/Q 96 rs776215265 0.9106 None gnomAD-2.1.1 4.02E-06
25954 65 K/Q 96 rs776215265 0.9106 None gnomAD-4.0.0 1.20032E-06
25957 68 T/I 99 rs372165943 0.5131 None gnomAD-2.1.1 4.02E-06
25957 68 T/I 99 rs372165943 0.5131 None gnomAD-3.1.2 1.32E-05
25957 68 T/I 99 rs372165943 0.5131 None gnomAD-4.0.0 3.84461E-06
25958 69 G/D 100 rs879174385 0.3820 None gnomAD-3.1.2 6.58E-06
25958 69 G/D 100 rs879174385 0.3820 None gnomAD-4.0.0 6.57808E-06
25958 69 G/V 100 None 0.3820 None gnomAD-4.0.0 1.59174E-06
25959 70 T/I 102 rs746565128 0.2240 None gnomAD-3.1.2 6.58E-06
25959 70 T/I 102 rs746565128 0.2240 None gnomAD-4.0.0 6.57765E-06
25959 70 T/K 102 None 0.2240 None gnomAD-4.0.0 1.20034E-06
25959 70 T/R 102 rs746565128 0.2240 None gnomAD-2.1.1 4.02E-06
25959 70 T/R 102 rs746565128 0.2240 None gnomAD-4.0.0 1.20034E-06
25960 71 E/K 103 rs367624488 0.2776 None gnomAD-2.1.1 8.57E-05
25960 71 E/K 103 rs367624488 0.2776 None gnomAD-3.1.2 2.56505E-04
25960 71 E/K 103 rs367624488 0.2776 None gnomAD-4.0.0 4.95855E-05
25961 72 Y/D 104 rs772167869 0.1480 None gnomAD-2.1.1 4.02E-06
25961 72 Y/D 104 rs772167869 0.1480 None gnomAD-4.0.0 1.59175E-06
25964 75 R/G 107 rs745748153 0.1448 None gnomAD-2.1.1 4.02E-06
25964 75 R/G 107 rs745748153 0.1448 None gnomAD-4.0.0 3.18347E-06
25966 77 F/L 109 None 0.1355 None gnomAD-4.0.0 1.20032E-06
25968 79 E/K 111 rs756933390 0.2693 None gnomAD-2.1.1 1.61E-05
25968 79 E/K 111 rs756933390 0.2693 None gnomAD-4.0.0 1.98445E-05
25969 80 N/S 112 rs1307235516 0.0963 None gnomAD-2.1.1 4.02E-06
25969 80 N/S 112 rs1307235516 0.0963 None gnomAD-4.0.0 3.18339E-06
25970 81 R/K 113 rs1356017017 0.5677 None gnomAD-2.1.1 4.02E-06
25970 81 R/K 113 rs1356017017 0.5677 None gnomAD-4.0.0 1.5917E-06
25971 82 Y/H 114 rs1432174919 0.3412 None gnomAD-2.1.1 4.02E-06
25971 82 Y/H 114 rs1432174919 0.3412 None gnomAD-4.0.0 1.02644E-05
25972 83 G/E 115 rs752809281 0.2093 None gnomAD-2.1.1 4.02E-06
25972 83 G/E 115 rs752809281 0.2093 None gnomAD-4.0.0 1.59173E-06
25973 84 Q/L 117 rs1481076140 0.3458 None gnomAD-2.1.1 4.02E-06
25973 84 Q/L 117 rs1481076140 0.3458 None gnomAD-4.0.0 3.18343E-06
25978 89 E/D 122 rs1025712241 0.4805 None gnomAD-3.1.2 6.58E-06
25978 89 E/D 122 rs1025712241 0.4805 None gnomAD-4.0.0 6.57886E-06
25978 89 E/G 122 None 0.4805 None gnomAD-4.0.0 1.20032E-06
25978 89 E/Q 122 rs767541275 0.4805 None gnomAD-2.1.1 8.04E-06
25978 89 E/Q 122 rs767541275 0.4805 None gnomAD-3.1.2 6.58E-06
25978 89 E/Q 122 rs767541275 0.4805 None gnomAD-4.0.0 7.68984E-06
25979 90 S/A 123 None 0.1298 None gnomAD-4.0.0 1.59169E-06
25979 90 S/F 123 None 0.1298 None gnomAD-4.0.0 1.59171E-06
25980 91 D/E 124 rs977275961 0.8246 None gnomAD-2.1.1 3.19E-05
25980 91 D/E 124 rs977275961 0.8246 None gnomAD-3.1.2 1.32E-05
25980 91 D/E 124 rs977275961 0.8246 None gnomAD-4.0.0 1.31574E-05
25981 92 P/R 126 rs794729505 0.4022 None gnomAD-2.1.1 4.02E-06
25981 92 P/R 126 rs794729505 0.4022 None gnomAD-4.0.0 1.59174E-06
25982 93 I/N 127 rs760050553 0.1767 None gnomAD-4.0.0 6.84291E-07
25982 93 I/T 127 rs760050553 0.1767 None gnomAD-2.1.1 4.02E-06
25982 93 I/T 127 rs760050553 0.1767 None gnomAD-3.1.2 1.32E-05
25982 93 I/T 127 rs760050553 0.1767 None gnomAD-4.0.0 1.05367E-05
25982 93 I/V 127 None 0.1767 None gnomAD-4.0.0 1.59171E-06
25983 94 V/L 128 rs562762535 0.3514 None gnomAD-3.1.2 6.58E-06
25983 94 V/L 128 rs562762535 0.3514 None 1000 genomes 1.99681E-04
25983 94 V/L 128 rs562762535 0.3514 None gnomAD-4.0.0 6.57333E-06
25984 95 A/D 130 rs766906797 0.0923 None gnomAD-2.1.1 4.02E-06
25984 95 A/D 130 rs766906797 0.0923 None gnomAD-4.0.0 2.05294E-06
25984 95 A/V 130 None 0.0923 None gnomAD-4.0.0 6.84314E-07
25985 96 Q/P 131 rs552211406 0.6077 None gnomAD-2.1.1 8.04E-06
25985 96 Q/P 131 rs552211406 0.6077 None gnomAD-3.1.2 1.32E-05
25985 96 Q/P 131 rs552211406 0.6077 None 1000 genomes 1.99681E-04
25985 96 Q/P 131 rs552211406 0.6077 None gnomAD-4.0.0 1.17755E-05
25986 97 Y/H 132 rs1706668829 0.8595 None gnomAD-4.0.0 2.40065E-06