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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16651 1 P/H 1 None 0.4030 None gnomAD-4.0.0 6.89576E-07
16651 1 P/S 1 rs537759268 0.4030 None gnomAD-3.1.2 6.65E-06
16651 1 P/S 1 rs537759268 0.4030 None gnomAD-4.0.0 2.50083E-06
16651 1 P/T 1 rs537759268 0.4030 None gnomAD-2.1.1 4.36E-06
16651 1 P/T 1 rs537759268 0.4030 None 1000 genomes 1.99681E-04
16653 3 S/L 3 rs746669146 0.1881 None gnomAD-2.1.1 8.44E-06
16653 3 S/L 3 rs746669146 0.1881 None gnomAD-4.0.0 4.82916E-06
16654 4 P/A 4 rs1362265469 0.2878 None gnomAD-2.1.1 4.21E-06
16654 4 P/A 4 rs1362265469 0.2878 None gnomAD-4.0.0 1.60804E-06
16654 4 P/S 4 rs1362265469 0.2878 None gnomAD-2.1.1 4.21E-06
16654 4 P/S 4 rs1362265469 0.2878 None gnomAD-4.0.0 1.60804E-06
16654 4 P/T 4 None 0.2878 None gnomAD-4.0.0 6.43217E-06
16655 5 P/T 5 rs794729449 0.1209 None gnomAD-4.0.0 6.85852E-07
16656 6 R/C 6 rs1030093239 0.3685 None gnomAD-2.1.1 7.35E-06
16656 6 R/C 6 rs1030093239 0.3685 None gnomAD-3.1.2 1.32E-05
16656 6 R/C 6 rs1030093239 0.3685 None gnomAD-4.0.0 1.11796E-05
16656 6 R/H 6 rs373799076 0.3685 None gnomAD-2.1.1 3.32E-05
16656 6 R/H 6 rs373799076 0.3685 None gnomAD-3.1.2 6.61E-06
16656 6 R/H 6 rs373799076 0.3685 None gnomAD-4.0.0 3.04448E-05
16656 6 R/L 6 rs373799076 0.3685 None gnomAD-4.0.0 6.17284E-06
16656 6 R/S 6 rs1030093239 0.3685 None gnomAD-2.1.1 8.3E-06
16656 6 R/S 6 rs1030093239 0.3685 None gnomAD-4.0.0 5.48543E-06
16659 9 E/K 11 rs778767799 0.4662 None gnomAD-2.1.1 4.13E-06
16659 9 E/K 11 rs778767799 0.4662 None gnomAD-3.1.2 6.59E-06
16659 9 E/K 11 rs778767799 0.4662 None gnomAD-4.0.0 6.4271E-06
16660 10 V/I 12 rs757016105 0.2708 None gnomAD-2.1.1 3.71E-05
16660 10 V/I 12 rs757016105 0.2708 None gnomAD-3.1.2 6.59E-06
16660 10 V/I 12 rs757016105 0.2708 None gnomAD-4.0.0 2.44193E-05
16661 11 I/T 13 None 0.5338 None gnomAD-4.0.0 1.3702E-06
16661 11 I/V 13 rs1353241870 0.5338 None gnomAD-2.1.1 4.12E-06
16661 11 I/V 13 rs1353241870 0.5338 None gnomAD-4.0.0 1.59611E-06
16662 12 N/D 14 rs2056522991 0.5450 None gnomAD-3.1.2 6.59E-06
16662 12 N/D 14 rs2056522991 0.5450 None gnomAD-4.0.0 6.58623E-06
16662 12 N/S 14 rs36043230 0.5450 None gnomAD-2.1.1 4.12E-06
16662 12 N/S 14 rs36043230 0.5450 None gnomAD-3.1.2 1.32E-05
16662 12 N/S 14 rs36043230 0.5450 None gnomAD-4.0.0 1.86158E-06
16662 12 N/T 14 rs36043230 0.5450 None gnomAD-2.1.1 1.57647E-02
16662 12 N/T 14 rs36043230 0.5450 None gnomAD-3.1.2 1.43738E-02
16662 12 N/T 14 rs36043230 0.5450 None 1000 genomes 6.38978E-03
16662 12 N/T 14 rs36043230 0.5450 None gnomAD-4.0.0 1.95167E-02
16663 13 I/T 15 rs774556838 0.1895 None gnomAD-2.1.1 1.23E-05
16663 13 I/T 15 rs774556838 0.1895 None gnomAD-3.1.2 1.32E-05
16663 13 I/T 15 rs774556838 0.1895 None gnomAD-4.0.0 1.61339E-05
16663 13 I/V 15 rs1410838349 0.1895 None gnomAD-4.0.0 3.42538E-06
16664 14 T/I 16 rs1171944721 0.2134 None gnomAD-2.1.1 8.23E-06
16664 14 T/I 16 rs1171944721 0.2134 None gnomAD-4.0.0 7.97939E-06
16665 15 K/R 17 None 0.4185 None gnomAD-4.0.0 1.59558E-06
16668 18 A/E 20 None 0.0816 None gnomAD-4.0.0 1.59546E-06
16668 18 A/P 20 None 0.0816 None gnomAD-4.0.0 6.84984E-07
16668 18 A/S 20 None 0.0816 None gnomAD-4.0.0 6.84984E-07
16668 18 A/V 20 None 0.0816 None gnomAD-4.0.0 1.59546E-06
16670 20 L/I 22 None 0.0969 None gnomAD-4.0.0 1.59526E-06
16673 23 T/R 25 rs373889292 0.2419 None gnomAD-4.0.0 3.42471E-06
16674 24 V/I 26 rs2056518372 0.5357 None gnomAD-3.1.2 6.58E-06
16674 24 V/I 26 rs2056518372 0.5357 None gnomAD-4.0.0 5.58331E-06
16676 26 E/G 28 None 0.8997 None gnomAD-4.0.0 1.59497E-06
16676 26 E/K 28 rs759582108 0.8997 None gnomAD-2.1.1 4.09E-06
16676 26 E/K 28 rs759582108 0.8997 None gnomAD-4.0.0 4.78506E-06
16678 28 D/E 30 rs774889204 0.4201 None gnomAD-2.1.1 4.09E-06
16678 28 D/G 30 None 0.4201 None gnomAD-4.0.0 1.5948E-06
16680 30 G/R 32 rs1206390929 0.6810 None gnomAD-2.1.1 4.09E-06
16680 30 G/R 32 rs1206390929 0.6810 None gnomAD-4.0.0 3.18982E-06
16681 31 S/P 33 None 0.2200 None gnomAD-4.0.0 1.36975E-06
16681 31 S/T 33 rs771522078 0.2200 None gnomAD-2.1.1 4.09E-06
16681 31 S/T 33 rs771522078 0.2200 None gnomAD-4.0.0 6.84876E-07
16682 32 P/L 34 rs1349579168 0.6695 None gnomAD-2.1.1 4.09E-06
16682 32 P/L 34 rs1349579168 0.6695 None gnomAD-3.1.2 6.58E-06
16682 32 P/L 34 rs1349579168 0.6695 None gnomAD-4.0.0 1.24064E-06
16682 32 P/S 34 None 0.6695 None gnomAD-4.0.0 4.78432E-06
16682 32 P/T 34 rs1231714517 0.6695 None gnomAD-2.1.1 4.09E-06
16682 32 P/T 34 rs1231714517 0.6695 None gnomAD-4.0.0 1.59477E-06
16684 34 T/I 36 rs1303563982 0.3383 None gnomAD-2.1.1 4.08E-06
16684 34 T/I 36 rs1303563982 0.3383 None gnomAD-4.0.0 1.36963E-06
16684 34 T/N 36 None 0.3383 None gnomAD-4.0.0 1.36963E-06
16684 34 T/S 36 None 0.3383 None gnomAD-4.0.0 6.84816E-07
16686 36 Y/C 38 rs2056512518 0.1075 RCM
Literature None
16687 37 I/M 39 rs1559789920 0.1263 None gnomAD-2.1.1 4.07E-06
16687 37 I/M 39 rs1559789920 0.1263 None gnomAD-4.0.0 1.59425E-06
16687 37 I/V 39 rs727504194 0.1263 None gnomAD-2.1.1 7.33E-05
16687 37 I/V 39 rs727504194 0.1263 None gnomAD-3.1.2 1.31636E-04
16687 37 I/V 39 rs727504194 0.1263 None gnomAD-4.0.0 2.72912E-05
16688 38 V/E 40 None 0.0969 None gnomAD-4.0.0 2.40064E-06
16693 43 V/A 50 rs927020149 0.4047 None gnomAD-2.1.1 4.06E-06
16693 43 V/A 50 rs927020149 0.4047 None gnomAD-3.1.2 6.58E-06
16693 43 V/A 50 rs927020149 0.4047 None gnomAD-4.0.0 5.58201E-06
16693 43 V/I 50 rs377141765 0.4047 None gnomAD-2.1.1 2.16E-05
16693 43 V/I 50 rs377141765 0.4047 None gnomAD-3.1.2 3.29E-05
16693 43 V/I 50 rs377141765 0.4047 None 1000 genomes 1.99681E-04
16693 43 V/I 50 rs377141765 0.4047 None gnomAD-4.0.0 3.53491E-05
16694 44 R/K 54 rs779633258 0.6039 None gnomAD-2.1.1 4.06E-06
16694 44 R/K 54 rs779633258 0.6039 None gnomAD-3.1.2 6.58E-06
16694 44 R/K 54 rs779633258 0.6039 None gnomAD-4.0.0 6.58224E-06
16695 45 R/Q 60 rs794729451 0.6794 None gnomAD-2.1.1 4.06E-06
16695 45 R/Q 60 rs794729451 0.6794 None gnomAD-3.1.2 2.63E-05
16695 45 R/Q 60 rs794729451 0.6794 None gnomAD-4.0.0 1.05435E-05
16696 46 K/N 63 rs745412383 1.0807 None gnomAD-2.1.1 4.06E-06
16696 46 K/N 63 rs745412383 1.0807 None gnomAD-4.0.0 1.59406E-06
16697 47 G/A 64 None 0.4070 None gnomAD-4.0.0 1.59394E-06
16697 47 G/C 64 rs1553698627 0.4070 None gnomAD-2.1.1 4.05E-06
16697 47 G/C 64 rs1553698627 0.4070 None gnomAD-4.0.0 2.05408E-06
16697 47 G/S 64 rs1553698627 0.4070 None gnomAD-2.1.1 1.22E-05
16697 47 G/S 64 rs1553698627 0.4070 None gnomAD-4.0.0 6.84694E-07
16698 48 W/R 65 None 0.2676 None gnomAD-4.0.0 1.59388E-06
16699 49 Q/R 66 None 0.5995 None gnomAD-4.0.0 1.59381E-06
16700 50 T/A 67 None 0.4049 None gnomAD-4.0.0 2.40064E-06
16701 51 V/M 68 None 0.2510 None gnomAD-4.0.0 1.5939E-06
16702 52 D/N 69 rs1417347726 0.2873 None gnomAD-2.1.1 7.19E-06
16702 52 D/N 69 rs1417347726 0.2873 None gnomAD-3.1.2 6.58E-06
16702 52 D/N 69 rs1417347726 0.2873 None gnomAD-4.0.0 2.48081E-06
16703 53 T/A 70 rs778518712 0.4428 None gnomAD-2.1.1 4.05E-06
16703 53 T/A 70 rs778518712 0.4428 None gnomAD-4.0.0 1.59387E-06
16703 53 T/I 70 rs757138357 0.4428 None gnomAD-2.1.1 4.05E-06
16703 53 T/I 70 rs757138357 0.4428 None gnomAD-4.0.0 1.59408E-06
16703 53 T/N 70 rs757138357 0.4428 None gnomAD-4.0.0 3.18816E-06
16706 56 K/E 83 None 0.7223 None gnomAD-4.0.0 2.40064E-06
16706 56 K/R 83 rs879111780 0.7223 None gnomAD-2.1.1 7.18E-06
16706 56 K/R 83 rs879111780 0.7223 None gnomAD-3.1.2 1.32E-05
16706 56 K/R 83 rs879111780 0.7223 None gnomAD-4.0.0 6.41578E-06
16707 57 D/N 88 rs1158553720 0.6936 None gnomAD-2.1.1 3.19E-05
16707 57 D/N 88 rs1158553720 0.6936 None gnomAD-3.1.2 6.58E-06
16707 57 D/N 88 rs1158553720 0.6936 None gnomAD-4.0.0 4.34139E-06
16708 58 T/A 89 rs2056500591 0.2050 None gnomAD-3.1.2 6.58E-06
16708 58 T/A 89 rs2056500591 0.2050 None gnomAD-4.0.0 2.56635E-06
16708 58 T/N 89 rs777539591 0.2050 None gnomAD-2.1.1 4.04E-06
16708 58 T/N 89 rs777539591 0.2050 None gnomAD-4.0.0 1.36939E-06
16708 58 T/P 89 None 0.2050 None gnomAD-4.0.0 1.59389E-06
16708 58 T/S 89 None 0.2050 None gnomAD-4.0.0 1.36939E-06
16709 59 K/N 90 rs1244376906 0.6284 None gnomAD-2.1.1 3.19E-05
16709 59 K/N 90 rs1244376906 0.6284 None gnomAD-3.1.2 6.58E-06
16709 59 K/N 90 rs1244376906 0.6284 None gnomAD-4.0.0 6.58328E-06
16709 59 K/Q 90 rs755961446 0.6284 None gnomAD-2.1.1 1.21E-05
16709 59 K/Q 90 rs755961446 0.6284 None gnomAD-4.0.0 7.96952E-06
16709 59 K/R 90 rs2056499137 0.6284 None gnomAD-3.1.2 6.58E-06
16709 59 K/R 90 rs2056499137 0.6284 None gnomAD-4.0.0 2.56639E-06
16711 61 T/R 92 None 0.3996 None gnomAD-4.0.0 1.59393E-06
16712 62 V/D 93 None 0.0972 None gnomAD-4.0.0 6.84701E-07
16712 62 V/G 93 rs1314552701 0.0972 None gnomAD-2.1.1 4.04E-06
16712 62 V/G 93 rs1314552701 0.0972 None gnomAD-4.0.0 4.1082E-06
16712 62 V/I 93 None 0.0972 None gnomAD-4.0.0 6.84696E-07
16712 62 V/L 93 rs2056497488 0.0972 None gnomAD-4.0.0 6.84696E-07
16713 63 T/I 94 rs2056496324 0.4852 None gnomAD-3.1.2 6.58E-06
16713 63 T/I 94 rs2056496324 0.4852 None gnomAD-4.0.0 6.58233E-06
16714 64 P/L 96 rs1309789816 0.6274 None gnomAD-2.1.1 4.04E-06
16714 64 P/L 96 rs1309789816 0.6274 None gnomAD-4.0.0 2.05411E-06
16715 65 L/V 97 rs1181230555 0.1016 None gnomAD-2.1.1 6.38E-05
16715 65 L/V 97 rs1181230555 0.1016 None gnomAD-3.1.2 1.97E-05
16715 65 L/V 97 rs1181230555 0.1016 None gnomAD-4.0.0 7.69888E-06
16717 67 E/D 99 rs369623681 0.5388 None gnomAD-2.1.1 1.08E-05
16717 67 E/D 99 rs369623681 0.5388 None gnomAD-3.1.2 1.97E-05
16717 67 E/D 99 rs369623681 0.5388 None gnomAD-4.0.0 2.17067E-05
16718 68 G/V 100 None 0.4017 None gnomAD-4.0.0 1.59394E-06
16719 69 S/Y 102 rs1416967090 0.1304 None gnomAD-2.1.1 4.04E-06
16719 69 S/Y 102 rs1416967090 0.1304 None gnomAD-4.0.0 1.594E-06
16721 71 Y/C 104 None 0.1065 None gnomAD-4.0.0 1.36945E-06
16724 74 R/Q 107 rs768793035 0.1086 None gnomAD-2.1.1 7.17E-06
16724 74 R/Q 107 rs768793035 0.1086 None gnomAD-3.1.2 1.32E-05
16724 74 R/Q 107 rs768793035 0.1086 None gnomAD-4.0.0 2.3568E-05
16726 76 A/T 109 None 0.0549 None gnomAD-4.0.0 1.20032E-06
16727 77 A/T 110 rs766576103 0.0756 None gnomAD-2.1.1 1.21E-05
16727 77 A/T 110 rs766576103 0.0756 None gnomAD-4.0.0 4.10832E-06
16727 77 A/V 110 None 0.0756 None gnomAD-4.0.0 1.20032E-06
16730 80 A/T 113 None 0.5198 None gnomAD-4.0.0 3.42348E-06
16730 80 A/V 113 rs763483590 0.5198 None gnomAD-2.1.1 4.04E-06
16730 80 A/V 113 rs763483590 0.5198 None gnomAD-4.0.0 1.59398E-06
16731 81 I/T 114 None 0.6372 None gnomAD-4.0.0 1.59386E-06
16731 81 I/V 114 None 0.6372 None gnomAD-4.0.0 1.20032E-06
16732 82 G/R 115 rs1419646565 0.1598 None gnomAD-2.1.1 4.04E-06
16732 82 G/R 115 rs1419646565 0.1598 None gnomAD-4.0.0 1.59388E-06
16734 84 S/G 118 rs1227059346 0.0987 None gnomAD-3.1.2 6.58E-06
16734 84 S/G 118 rs1227059346 0.0987 None gnomAD-4.0.0 6.5825E-06
16735 85 D/E 119 None 0.8089 None gnomAD-4.0.0 6.84702E-07
16735 85 D/N 119 rs773927256 0.8089 None gnomAD-2.1.1 8.07E-06
16735 85 D/N 119 rs773927256 0.8089 None gnomAD-3.1.2 6.58E-06
16735 85 D/N 119 rs773927256 0.8089 None gnomAD-4.0.0 1.41157E-05
16736 86 Y/N 120 None 0.2706 None gnomAD-4.0.0 1.20032E-06
16737 87 T/A 121 None 0.2251 None gnomAD-4.0.0 1.59394E-06
16737 87 T/I 121 None 0.2251 None gnomAD-4.0.0 3.60097E-06
16738 88 E/G 122 None 0.3291 None gnomAD-4.0.0 3.18788E-06
16738 88 E/K 122 rs148018042 0.3291 None gnomAD-2.1.1 1.46918E-04
16738 88 E/K 122 rs148018042 0.3291 None gnomAD-3.1.2 1.84232E-04
16738 88 E/K 122 rs148018042 0.3291 None 1000 genomes 3.99361E-04
16738 88 E/K 122 rs148018042 0.3291 None gnomAD-4.0.0 2.19528E-04
16739 89 I/V 123 rs1553698265 0.1489 None gnomAD-4.0.0 1.59395E-06
16740 90 E/G 124 rs1314963445 1.0516 None gnomAD-3.1.2 6.58E-06
16740 90 E/G 124 rs1314963445 1.0516 None gnomAD-4.0.0 6.57903E-06
16740 90 E/K 124 rs771586396 1.0516 None gnomAD-2.1.1 4.04E-06
16740 90 E/K 124 rs771586396 1.0516 None gnomAD-4.0.0 2.05414E-06
16741 91 D/E 125 rs372658275 0.9123 None gnomAD-3.1.2 1.97E-05
16741 91 D/E 125 rs372658275 0.9123 None gnomAD-4.0.0 3.10078E-06
16743 93 V/L 127 None 0.2490 None gnomAD-4.0.0 1.59407E-06
16743 93 V/M 127 None 0.2490 None gnomAD-4.0.0 1.59407E-06
16745 95 A/T 130 rs2056479723 0.0718 None gnomAD-3.1.2 6.58E-06
16745 95 A/T 130 rs2056479723 0.0718 None gnomAD-4.0.0 1.86092E-06
16746 96 K/Q 131 None 0.4974 None gnomAD-4.0.0 4.80129E-06
16746 96 K/T 131 rs1367329297 0.4974 None gnomAD-3.1.2 6.58E-06
16746 96 K/T 131 rs1367329297 0.4974 None gnomAD-4.0.0 2.0302E-06
16747 97 D/G 132 rs745559631 0.4966 None gnomAD-2.1.1 4.04E-06