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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 T F L S R P K S L T T F V G K A A K F I C T V T G T P V I E T I W Q K D G A A L S P S P N W R I S D A E N K H I L E L S N L T I Q D R G V Y S C K A S N K F G A D I C Q A E L I I I D K P H F I K E L E P V Q S A I N K K V H L E C Q V D E D R K V T V T W S K D G Q K L P P G K D Y K I C F E D K I A T L E I P L A K L K D S G T Y V C T A S N E A G S S S C S A T V T V R
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P H F I K E L E P V Q S A I N K K V H L E C Q V D E D R K V T V T W S K D G Q K L P P G K D Y K I C F E D K I A T L E I P L A K L K D S G T Y V C T A S N E A G S S S C S A T V T V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
4888 1 P/A 1 rs376799249 0.1194 None gnomAD-2.1.1 5.72E-05
4888 1 P/A 1 rs376799249 0.1194 None gnomAD-3.1.2 5.26E-05
4888 1 P/A 1 rs376799249 0.1194 None gnomAD-4.0.0 1.38821E-04
4888 1 P/R 1 None 0.1194 None gnomAD-4.0.0 1.59147E-06
4888 1 P/S 1 None 0.1194 None gnomAD-3.1.2 6.57E-06
4888 1 P/S 1 None 0.1194 None gnomAD-4.0.0 6.57246E-06
4889 2 H/R 2 rs766842583 0.3575 None gnomAD-2.1.1 4.03E-06
4889 2 H/R 2 rs766842583 0.3575 None gnomAD-4.0.0 2.73702E-06
4889 2 H/Y 2 None 0.3575 None gnomAD-4.0.0 1.59151E-06
4890 3 F/L 3 None 0.1616 None gnomAD-4.0.0 6.84262E-07
4891 4 I/L 4 rs1304712343 0.6424 None gnomAD-3.1.2 6.57E-06
4891 4 I/L 4 rs1304712343 0.6424 None gnomAD-4.0.0 6.56996E-06
4891 4 I/S 4 None 0.6424 None gnomAD-4.0.0 1.20032E-06
4892 5 K/E 5 rs1200349655 0.2884 None gnomAD-2.1.1 4.03E-06
4892 5 K/E 5 rs1200349655 0.2884 None gnomAD-3.1.2 6.57E-06
4892 5 K/E 5 rs1200349655 0.2884 None gnomAD-4.0.0 1.30139E-05
4893 6 E/D 7 rs761383226 0.5727 None gnomAD-2.1.1 8.05E-06
4893 6 E/D 7 rs761383226 0.5727 None gnomAD-4.0.0 9.549E-06
4893 6 E/K 7 None 0.5727 None gnomAD-4.0.0 6.84258E-07
4893 6 E/Q 7 None 0.5727 None gnomAD-4.0.0 6.84258E-07
4895 8 E/G 9 rs753337029 0.7502 None gnomAD-2.1.1 4.03E-06
4895 8 E/G 9 rs753337029 0.7502 None gnomAD-4.0.0 1.5915E-06
4895 8 E/Q 9 None 0.7502 None gnomAD-4.0.0 1.36851E-06
4896 9 P/S 11 None 0.5402 None gnomAD-4.0.0 2.40064E-06
4898 11 Q/L 14 None 0.5742 None gnomAD-4.0.0 1.59143E-06
4898 11 Q/R 14 rs763540495 0.5742 None gnomAD-2.1.1 4.02E-06
4898 11 Q/R 14 rs763540495 0.5742 None gnomAD-4.0.0 1.59143E-06
4900 13 A/P 18 rs72648923 0.3241 None gnomAD-2.1.1 4.02E-06
4900 13 A/P 18 rs72648923 0.3241 None gnomAD-4.0.0 1.36849E-06
4900 13 A/T 18 None 0.3241 None gnomAD-2.1.1 3.78068E-03
4900 13 A/T 18 None 0.3241 None gnomAD-3.1.2 3.20669E-03
4900 13 A/T 18 None 0.3241 None 1000 genomes 1.79712E-03
4900 13 A/T 18 None 0.3241 None gnomAD-4.0.0 2.54745E-03
4900 13 A/V 18 rs771948633 0.3241 None gnomAD-2.1.1 8.93E-05
4900 13 A/V 18 rs771948633 0.3241 None gnomAD-3.1.2 6.57E-06
4900 13 A/V 18 rs771948633 0.3241 None gnomAD-4.0.0 1.36339E-05
4901 14 I/V 23 rs886038840 0.4805 None gnomAD-2.1.1 4.02E-06
4901 14 I/V 23 rs886038840 0.4805 None gnomAD-4.0.0 4.10536E-06
4902 15 N/H 24 rs1461011434 0.6307 None gnomAD-3.1.2 6.57E-06
4902 15 N/H 24 rs1461011434 0.6307 None gnomAD-4.0.0 6.56996E-06
4902 15 N/S 24 rs1208544617 0.6307 None gnomAD-3.1.2 6.57E-06
4902 15 N/S 24 rs1208544617 0.6307 None gnomAD-4.0.0 2.5621E-06
4903 16 K/N 25 rs1060500444 0.6089 None gnomAD-4.0.0 1.59139E-06
4903 16 K/R 25 None 0.6089 None gnomAD-4.0.0 6.84229E-07
4903 16 K/T 25 None 0.6089 None gnomAD-4.0.0 6.84229E-07
4904 17 K/E 26 None 0.3868 None gnomAD-4.0.0 3.60097E-06
4904 17 K/R 26 rs1466517766 0.3868 None gnomAD-2.1.1 1.07E-05
4904 17 K/R 26 rs1466517766 0.3868 None gnomAD-3.1.2 6.57E-06
4904 17 K/R 26 rs1466517766 0.3868 None gnomAD-4.0.0 3.84316E-06
4905 18 V/D 28 None 0.1896 None gnomAD-4.0.0 7.20193E-06
4905 18 V/I 28 rs774495507 0.1896 None gnomAD-2.1.1 4.02E-06
4906 19 H/L 29 rs2081328374 0.4229 None gnomAD-3.1.2 6.57E-06
4906 19 H/L 29 rs2081328374 0.4229 None gnomAD-4.0.0 6.57013E-06
4906 19 H/Q 29 rs192727802 0.4229 None 1000 genomes 1.99681E-04
4907 20 L/F 30 None 0.1353 None gnomAD-4.0.0 6.84227E-07
4907 20 L/I 30 rs2081327474 0.1353 None gnomAD-4.0.0 6.84227E-07
4907 20 L/P 30 None 0.1353 None gnomAD-4.0.0 1.20032E-06
4909 22 C/F 33 None 0.0750 None gnomAD-4.0.0 6.84226E-07
4909 22 C/Y 33 rs188073989 0.0750 None gnomAD-4.0.0 6.84226E-07
4911 24 V/I 35 rs2081325701 0.0969 None gnomAD-4.0.0 3.4212E-06
4912 25 D/A 38 None 0.2899 None gnomAD-4.0.0 1.36848E-06
4912 25 D/G 38 rs2081324623 0.2899 None gnomAD-4.0.0 2.05271E-06
4912 25 D/V 38 rs2081324623 0.2899 None gnomAD-3.1.2 6.57E-06
4912 25 D/V 38 rs2081324623 0.2899 None gnomAD-4.0.0 6.56961E-06
4912 25 D/Y 38 rs1177138515 0.2899 None gnomAD-4.0.0 4.78961E-06
4916 29 K/E 43 rs376597173 0.5609 None gnomAD-2.1.1 7.14E-05
4916 29 K/E 43 rs376597173 0.5609 None gnomAD-3.1.2 1.31403E-04
4916 29 K/E 43 rs376597173 0.5609 None gnomAD-4.0.0 1.1898E-04
4917 30 V/I 44 None 0.1488 None gnomAD-4.0.0 2.40064E-06
4918 31 T/I 45 rs749179515 0.6262 None gnomAD-2.1.1 4.02E-06
4918 31 T/I 45 rs749179515 0.6262 None gnomAD-4.0.0 4.77407E-06
4920 33 T/A 47 rs1178136076 0.4511 None gnomAD-2.1.1 4.02E-06
4920 33 T/A 47 rs1178136076 0.4511 None gnomAD-4.0.0 1.5913E-06
4920 33 T/K 47 rs371455094 0.4511 None gnomAD-2.1.1 4.02E-06
4920 33 T/K 47 rs371455094 0.4511 None gnomAD-4.0.0 6.84233E-07
4920 33 T/M 47 rs371455094 0.4511 None gnomAD-2.1.1 7.14E-05
4920 33 T/M 47 rs371455094 0.4511 None gnomAD-3.1.2 1.24908E-04
4920 33 T/M 47 rs371455094 0.4511 None gnomAD-4.0.0 4.02826E-05
4921 34 W/R 48 rs769723198 0.1560 None gnomAD-2.1.1 7.14E-06
4921 34 W/R 48 rs769723198 0.1560 None gnomAD-3.1.2 6.57E-06
4921 34 W/R 48 rs769723198 0.1560 None gnomAD-4.0.0 1.8591E-06
4922 35 S/N 49 rs184740744 0.1497 None gnomAD-2.1.1 5.31717E-03
4922 35 S/N 49 rs184740744 0.1497 None gnomAD-3.1.2 1.89924E-03
4922 35 S/N 49 rs184740744 0.1497 None 1000 genomes 3.99361E-03
4922 35 S/N 49 rs184740744 0.1497 None gnomAD-4.0.0 1.27401E-03
4922 35 S/R 49 rs2081320760 0.1497 None gnomAD-4.0.0 1.59138E-06
4923 36 K/N 50 None 0.1180 None gnomAD-4.0.0 1.59133E-06
4924 37 D/G 51 rs1560852223 0.5412 None gnomAD-4.0.0 1.36844E-06
4924 37 D/N 51 rs1330716005 0.5412 None gnomAD-3.1.2 6.57E-06
4924 37 D/N 51 rs1330716005 0.5412 None gnomAD-4.0.0 6.57117E-06
4924 37 D/V 51 rs1560852223 0.5412 None gnomAD-4.0.0 3.4211E-06
4925 38 G/A 52 None 0.5642 None gnomAD-4.0.0 1.59138E-06
4926 39 Q/P 55 rs751919672 0.7916 None gnomAD-2.1.1 4.02E-06
4927 40 K/N 56 rs780599464 0.6142 None gnomAD-2.1.1 8.05E-06
4927 40 K/N 56 rs780599464 0.6142 None gnomAD-4.0.0 6.84233E-07
4928 41 L/F 58 rs758924238 0.1674 None gnomAD-2.1.1 8.05E-06
4928 41 L/F 58 rs758924238 0.1674 None gnomAD-4.0.0 3.42118E-06
4928 41 L/R 58 rs1347273297 0.1674 None gnomAD-4.0.0 3.18286E-06
4929 42 P/A 59 rs2081317152 0.6016 None gnomAD-3.1.2 6.57E-06
4929 42 P/A 59 rs2081317152 0.6016 None gnomAD-4.0.0 6.57229E-06
4929 42 P/S 59 None 0.6016 None gnomAD-4.0.0 1.20032E-06
4930 43 P/A 70 rs201744218 0.6396 None gnomAD-2.1.1 1.00026E-04
4930 43 P/A 70 rs201744218 0.6396 None gnomAD-3.1.2 1.1177E-04
4930 43 P/A 70 rs201744218 0.6396 None gnomAD-4.0.0 3.96638E-05
4930 43 P/L 70 None 0.6396 None gnomAD-4.0.0 1.59153E-06
4930 43 P/T 70 rs201744218 0.6396 None gnomAD-2.1.1 1.46466E-04
4930 43 P/T 70 rs201744218 0.6396 None gnomAD-3.1.2 4.86522E-04
4930 43 P/T 70 rs201744218 0.6396 None 1000 genomes 1.99681E-04
4930 43 P/T 70 rs201744218 0.6396 None gnomAD-4.0.0 1.0411E-04
4931 44 G/R 73 rs767070682 0.4055 None gnomAD-2.1.1 8.05E-06
4931 44 G/R 73 rs767070682 0.4055 None gnomAD-4.0.0 3.18289E-06
4932 45 K/R 111 None 0.9853 None gnomAD-4.0.0 1.20032E-06
4933 46 D/Y 115 rs984284016 0.6863 None gnomAD-2.1.1 4.02E-06
4933 46 D/Y 115 rs984284016 0.6863 None gnomAD-3.1.2 6.57E-06
4933 46 D/Y 115 rs984284016 0.6863 None gnomAD-4.0.0 6.57056E-06
4934 47 Y/C 121 None 0.3607 None gnomAD-4.0.0 2.05274E-06
4934 47 Y/D 121 rs2081313340 0.3607 None gnomAD-3.1.2 6.57E-06
4934 47 Y/D 121 rs2081313340 0.3607 None gnomAD-4.0.0 6.57134E-06
4934 47 Y/H 121 None 0.3607 None gnomAD-4.0.0 1.59148E-06
4935 48 K/E 122 rs759432239 0.4472 None gnomAD-2.1.1 8.05E-06
4935 48 K/E 122 rs759432239 0.4472 None gnomAD-4.0.0 4.77445E-06
4936 49 I/M 123 None 0.2413 None gnomAD-4.0.0 6.8426E-07
4938 51 F/C 127 None 0.3062 None gnomAD-4.0.0 1.36856E-06
4938 51 F/S 127 rs560537668 0.3062 None gnomAD-2.1.1 9.26E-05
4938 51 F/S 127 rs560537668 0.3062 None gnomAD-3.1.2 1.18255E-04
4938 51 F/S 127 rs560537668 0.3062 None 1000 genomes 1.99681E-04
4938 51 F/S 127 rs560537668 0.3062 None gnomAD-4.0.0 9.48119E-05
4939 52 E/D 130 None 0.7848 None gnomAD-4.0.0 1.59166E-06
4939 52 E/Q 130 rs2081311155 0.7848 None gnomAD-3.1.2 6.57E-06
4939 52 E/Q 130 rs2081311155 0.7848 None gnomAD-4.0.0 6.57134E-06
4940 53 D/H 131 rs763015586 0.9847 None gnomAD-3.1.2 6.57E-06
4940 53 D/H 131 rs763015586 0.9847 None gnomAD-4.0.0 6.57039E-06
4940 53 D/N 131 rs763015586 0.9847 None gnomAD-2.1.1 4.03E-06
4940 53 D/N 131 rs763015586 0.9847 None gnomAD-4.0.0 1.36858E-06
4941 54 K/T 134 None 0.1422 None gnomAD-4.0.0 1.36856E-06
4942 55 I/T 135 rs773235984 0.3014 None gnomAD-2.1.1 4.03E-06
4942 55 I/T 135 rs773235984 0.3014 None gnomAD-3.1.2 6.57E-06
4942 55 I/T 135 rs773235984 0.3014 None gnomAD-4.0.0 3.84408E-06
4943 56 A/E 136 rs540497678 0.0982 None gnomAD-2.1.1 7.65E-05
4943 56 A/E 136 rs540497678 0.0982 None gnomAD-3.1.2 2.63E-05
4943 56 A/E 136 rs540497678 0.0982 None 1000 genomes 1.99681E-04
4943 56 A/E 136 rs540497678 0.0982 None gnomAD-4.0.0 3.5944E-05
4943 56 A/G 136 rs540497678 0.0982 None gnomAD-2.1.1 3.18E-05
4943 56 A/T 136 rs2081309584 0.0982 None gnomAD-3.1.2 6.57E-06
4943 56 A/T 136 rs2081309584 0.0982 None gnomAD-4.0.0 3.84427E-06
4944 57 T/A 137 rs1479138931 0.2272 None gnomAD-4.0.0 1.02647E-05
4944 57 T/I 137 None 0.2272 None gnomAD-4.0.0 1.20032E-06
4945 58 L/P 138 None 0.0829 None gnomAD-4.0.0 1.5918E-06
4945 58 L/V 138 None 0.0829 None gnomAD-4.0.0 1.20032E-06
4946 59 E/D 139 rs1169291552 0.1884 None gnomAD-4.0.0 4.77567E-06
4946 59 E/K 139 rs2081307227 0.1884 None gnomAD-4.0.0 2.053E-06
4947 60 I/T 140 None 0.1485 None gnomAD-4.0.0 2.40064E-06
4949 62 L/F 143 rs370996177 0.6987 None gnomAD-2.1.1 3.18E-05
4949 62 L/F 143 rs370996177 0.6987 None gnomAD-3.1.2 1.97E-05
4949 62 L/F 143 rs370996177 0.6987 None gnomAD-4.0.0 1.97189E-05
4949 62 L/V 143 None 0.6987 None gnomAD-4.0.0 6.84358E-07
4951 64 K/R 145 rs1235893686 0.4469 None gnomAD-2.1.1 4.03E-06
4951 64 K/R 145 rs1235893686 0.4469 None gnomAD-4.0.0 2.05335E-06
4952 65 L/M 146 rs781546825 0.7659 None gnomAD-2.1.1 4.04E-06
4954 67 D/H 149 rs1443901302 0.2031 None gnomAD-4.0.0 1.59309E-06
4954 67 D/Y 149 rs1443901302 0.2031 None gnomAD-2.1.1 4.04E-06
4954 67 D/Y 149 rs1443901302 0.2031 None gnomAD-4.0.0 1.5931E-06
4955 68 S/L 151 None 0.2157 None gnomAD-4.0.0 1.20032E-06
4956 69 G/E 152 rs747180511 0.1747 None gnomAD-2.1.1 2.02E-05
4956 69 G/E 152 rs747180511 0.1747 None gnomAD-3.1.2 6.57E-06
4956 69 G/E 152 rs747180511 0.1747 None gnomAD-4.0.0 1.05391E-05
4956 69 G/R 152 rs768749718 0.1747 None gnomAD-2.1.1 2.02E-05
4956 69 G/R 152 rs768749718 0.1747 None gnomAD-3.1.2 1.97E-05
4956 69 G/R 152 rs768749718 0.1747 None gnomAD-4.0.0 2.73824E-06
4957 70 T/A 153 rs780405420 0.3652 None gnomAD-2.1.1 4.04E-06
4957 70 T/A 153 rs780405420 0.3652 None gnomAD-4.0.0 1.36918E-06
4957 70 T/I 153 rs72648925 0.3652 None gnomAD-2.1.1 1.21E-05
4957 70 T/I 153 rs72648925 0.3652 None gnomAD-3.1.2 6.57E-06
4957 70 T/I 153 rs72648925 0.3652 None gnomAD-4.0.0 2.7901E-05
4957 70 T/P 153 None 0.3652 None gnomAD-2.1.1 1.07562E-04
4957 70 T/P 153 None 0.3652 None gnomAD-3.1.2 1.37994E-04
4957 70 T/P 153 None 0.3652 None gnomAD-4.0.0 9.36197E-05
4957 70 T/S 153 rs72648925 0.3652 None gnomAD-2.1.1 2.83993E-03
4957 70 T/S 153 rs72648925 0.3652 None gnomAD-3.1.2 2.87183E-03
4957 70 T/S 153 rs72648925 0.3652 None 1000 genomes 1.79712E-03
4957 70 T/S 153 rs72648925 0.3652 None gnomAD-4.0.0 2.98458E-03
4958 71 Y/C 154 rs530572005 0.1263 None gnomAD-2.1.1 1.62E-05
4958 71 Y/C 154 rs530572005 0.1263 None gnomAD-3.1.2 1.97E-05
4958 71 Y/C 154 rs530572005 0.1263 None gnomAD-4.0.0 4.09261E-05
4958 71 Y/H 154 None 0.1263 None gnomAD-4.0.0 2.40064E-06
4960 73 C/G 156 rs879004875 0.0657 None gnomAD-2.1.1 8.11E-06
4960 73 C/G 156 rs879004875 0.0657 None gnomAD-3.1.2 1.31E-05
4960 73 C/G 156 rs879004875 0.0657 None gnomAD-4.0.0 7.44486E-06
4960 73 C/R 156 rs879004875 0.0657 None gnomAD-4.0.0 4.79572E-06
4960 73 C/Y 156 None 0.0657 None gnomAD-4.0.0 1.20032E-06
4961 74 T/I 157 rs1298192031 0.3128 None gnomAD-2.1.1 4.06E-06
4961 74 T/I 157 rs1298192031 0.3128 None gnomAD-4.0.0 1.59675E-06
4961 74 T/R 157 None 0.3128 None gnomAD-4.0.0 1.59675E-06
4962 75 A/S 158 rs957102154 0.1047 None gnomAD-2.1.1 2.04E-05
4962 75 A/S 158 rs957102154 0.1047 None gnomAD-4.0.0 5.49119E-06
4962 75 A/T 158 None 0.1047 None gnomAD-4.0.0 6.86399E-07
4962 75 A/V 158 None 0.1047 None gnomAD-4.0.0 2.05935E-06
4963 76 S/P 159 rs754692297 0.2797 None gnomAD-2.1.1 4.11E-06
4963 76 S/P 159 rs754692297 0.2797 None gnomAD-4.0.0 4.81869E-06
4965 78 E/K 162 rs2081295922 0.4769 None gnomAD-4.0.0 2.06523E-06
4967 80 G/A 164 None 0.2206 None gnomAD-4.0.0 1.62461E-06
4967 80 G/R 164 rs267599070 0.2206 None gnomAD-2.1.1 4.21E-06
4967 80 G/R 164 rs267599070 0.2206 None gnomAD-4.0.0 3.24923E-06
4968 81 S/G 165 rs762238210 0.5076 None gnomAD-4.0.0 1.10435E-05
4968 81 S/N 165 rs1165201342 0.5076 None gnomAD-2.1.1 4.21E-06
4968 81 S/N 165 rs1165201342 0.5076 None gnomAD-4.0.0 1.62688E-06
4969 82 S/G 166 None 0.1882 None gnomAD-4.0.0 1.63519E-06
4969 82 S/N 166 rs762810073 0.1882 None gnomAD-2.1.1 8.54E-06
4969 82 S/N 166 rs762810073 0.1882 None gnomAD-4.0.0 1.63777E-06
4970 83 S/F 168 rs1418301543 0.4572 None gnomAD-2.1.1 4.28E-06
4970 83 S/F 168 rs1418301543 0.4572 None gnomAD-3.1.2 1.31E-05
4970 83 S/F 168 rs1418301543 0.4572 None gnomAD-4.0.0 1.31935E-05
4971 84 C/G 169 rs537312655 0.0909 None gnomAD-2.1.1 3.97851E-04
4971 84 C/G 169 rs537312655 0.0909 None gnomAD-3.1.2 4.13929E-04
4971 84 C/G 169 rs537312655 0.0909 None gnomAD-4.0.0 1.16669E-04
4972 85 S/L 171 rs868769069 0.4447 None gnomAD-4.0.0 6.94348E-07
4973 86 A/T 172 None 0.1124 None gnomAD-4.0.0 1.20032E-06
4975 88 V/D 174 rs2081290563 0.1312 None gnomAD-4.0.0 1.67158E-06
4976 89 T/I 175 None 0.3550 None gnomAD-4.0.0 7.01756E-07
4977 90 V/A 178 None 0.1539 None gnomAD-4.0.0 7.03072E-07