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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25406 2 P/Q 2 None 0.1066 None gnomAD-4.0.0 3.60097E-06
25406 2 P/R 2 rs771016168 0.1066 None gnomAD-2.1.1 4.03E-06
25408 4 P/H 4 None 0.3576 None gnomAD-4.0.0 2.40064E-06
25408 4 P/L 4 None 0.3576 None gnomAD-4.0.0 1.20032E-06
25409 5 P/A 5 None 0.1229 None gnomAD-4.0.0 1.59212E-06
25409 5 P/L 5 rs1707518545 0.1229 None gnomAD-4.0.0 5.47497E-06
25410 6 N/D 6 rs749561648 0.3312 None gnomAD-2.1.1 4.03E-06
25410 6 N/D 6 rs749561648 0.3312 None gnomAD-4.0.0 1.16341E-05
25410 6 N/I 6 rs397517706 0.3312 None gnomAD-2.1.1 4.03E-06
25410 6 N/I 6 rs397517706 0.3312 None gnomAD-4.0.0 4.77622E-06
25410 6 N/K 6 None 0.3312 None gnomAD-4.0.0 3.60097E-06
25413 9 K/E 11 None 0.5607 None gnomAD-4.0.0 1.20032E-06
25413 9 K/R 11 rs367696053 0.5607 None gnomAD-2.1.1 8.06E-06
25413 9 K/R 11 rs367696053 0.5607 None gnomAD-4.0.0 2.05305E-06
25415 11 I/R 13 rs748670245 0.4431 None gnomAD-2.1.1 4.03E-06
25415 11 I/R 13 rs748670245 0.4431 None gnomAD-4.0.0 8.89644E-06
25415 11 I/T 13 rs748670245 0.4431 None gnomAD-4.0.0 2.73737E-06
25415 11 I/V 13 rs1707513771 0.4431 None gnomAD-4.0.0 1.20032E-06
25416 12 D/E 14 rs781781445 0.6009 None gnomAD-2.1.1 7.15E-06
25416 12 D/E 14 rs781781445 0.6009 None gnomAD-3.1.2 1.32E-05
25416 12 D/E 14 rs781781445 0.6009 None gnomAD-4.0.0 4.95884E-06
25417 13 I/L 15 None 0.3187 None gnomAD-4.0.0 6.84338E-07
25417 13 I/V 15 rs755528335 0.3187 None gnomAD-2.1.1 1.61E-05
25417 13 I/V 15 rs755528335 0.3187 None gnomAD-3.1.2 6.58E-06
25417 13 I/V 15 rs755528335 0.3187 None gnomAD-4.0.0 3.71896E-06
25419 15 R/K 17 rs1427806281 0.6569 None gnomAD-2.1.1 4.03E-06
25419 15 R/K 17 rs1427806281 0.6569 None gnomAD-4.0.0 1.59199E-06
25422 18 V/L 20 rs751917176 0.1131 None gnomAD-2.1.1 8.05E-06
25422 18 V/L 20 rs751917176 0.1131 None gnomAD-4.0.0 2.73731E-06
25423 19 F/L 21 rs1034189654 0.3033 None gnomAD-4.0.0 1.20032E-06
25426 22 W/S 24 None 0.1002 None gnomAD-4.0.0 1.59191E-06
25427 23 S/G 25 rs1412222189 0.2142 None gnomAD-3.1.2 6.58E-06
25427 23 S/G 25 rs1412222189 0.2142 None gnomAD-4.0.0 6.57635E-06
25427 23 S/N 25 rs1171926149 0.2142 None gnomAD-3.1.2 1.32E-05
25427 23 S/N 25 rs1171926149 0.2142 None gnomAD-4.0.0 1.31551E-05
25428 24 K/R 26 rs1264945919 0.3394 None gnomAD-2.1.1 4.02E-06
25428 24 K/R 26 rs1264945919 0.3394 None gnomAD-4.0.0 1.59186E-06
25429 25 P/R 27 None 0.1110 None gnomAD-4.0.0 1.20032E-06
25429 25 P/T 27 rs1707494273 0.1110 None gnomAD-4.0.0 1.59191E-06
25430 26 I/M 28 None 0.9426 None gnomAD-4.0.0 1.59184E-06
25430 26 I/T 28 rs2154168088 0.9426 None gnomAD-4.0.0 4.8013E-06
25430 26 I/V 28 rs756888687 0.9426 None gnomAD-2.1.1 1.07E-05
25430 26 I/V 28 rs756888687 0.9426 None gnomAD-3.1.2 1.32E-05
25430 26 I/V 28 rs756888687 0.9426 None gnomAD-4.0.0 5.12638E-06
25431 27 Y/C 29 rs79906856 0.3713 None gnomAD-2.1.1 1.61E-05
25431 27 Y/C 29 rs79906856 0.3713 None gnomAD-3.1.2 1.97E-05
25431 27 Y/C 29 rs79906856 0.3713 None 1000 genomes 1.99681E-04
25431 27 Y/C 29 rs79906856 0.3713 None gnomAD-4.0.0 1.61139E-05
25431 27 Y/H 29 None 0.3713 None gnomAD-4.0.0 8.21181E-06
25431 27 Y/N 29 rs1488563673 0.3713 None gnomAD-2.1.1 4.02E-06
25431 27 Y/N 29 rs1488563673 0.3713 None gnomAD-4.0.0 6.84317E-07
25432 28 D/G 30 rs760107858 0.2996 None gnomAD-2.1.1 1.61E-05
25432 28 D/G 30 rs760107858 0.2996 None gnomAD-4.0.0 3.18365E-06
25433 29 G/D 31 None 0.0785 None gnomAD-4.0.0 3.18373E-06
25434 30 G/D 32 rs774972434 0.4522 None gnomAD-2.1.1 8.85E-05
25434 30 G/D 32 rs774972434 0.4522 None gnomAD-3.1.2 6.58E-06
25434 30 G/D 32 rs774972434 0.4522 None gnomAD-4.0.0 2.10742E-05
25434 30 G/R 32 None 0.4522 None gnomAD-4.0.0 2.40064E-06
25435 31 C/G 33 rs1329731754 0.1139 None gnomAD-2.1.1 4.02E-06
25435 31 C/G 33 rs1329731754 0.1139 None gnomAD-4.0.0 1.59187E-06
25435 31 C/Y 33 rs767496380 0.1139 None gnomAD-2.1.1 4.02E-06
25435 31 C/Y 33 rs767496380 0.1139 None gnomAD-4.0.0 2.40064E-06
25438 34 Q/P 36 rs1707482810 0.4192 None gnomAD-4.0.0 1.5919E-06
25439 35 G/R 37 None 0.1131 None gnomAD-4.0.0 1.59198E-06
25440 36 Y/H 38 rs1387581169 0.1107 None gnomAD-2.1.1 4.02E-06
25440 36 Y/H 38 rs1387581169 0.1107 None gnomAD-3.1.2 6.58E-06
25440 36 Y/H 38 rs1387581169 0.1107 None gnomAD-4.0.0 2.56341E-06
25441 37 I/V 39 rs759489696 0.1846 None gnomAD-2.1.1 4.02E-06
25441 37 I/V 39 rs759489696 0.1846 None gnomAD-3.1.2 6.58E-06
25441 37 I/V 39 rs759489696 0.1846 None gnomAD-4.0.0 4.33889E-06
25442 38 V/A 40 rs1707475730 0.1193 None gnomAD-3.1.2 6.58E-06
25442 38 V/A 40 rs1707475730 0.1193 None gnomAD-4.0.0 2.5637E-06
25442 38 V/L 40 rs1217166434 0.1193 None gnomAD-2.1.1 3.19E-05
25442 38 V/L 40 rs1217166434 0.1193 None gnomAD-3.1.2 6.58E-06
25442 38 V/L 40 rs1217166434 0.1193 None gnomAD-4.0.0 6.57886E-06
25443 39 E/G 41 rs879171592 0.1840 None gnomAD-2.1.1 4.03E-06
25443 39 E/G 41 rs879171592 0.1840 None gnomAD-3.1.2 1.32E-05
25443 39 E/G 41 rs879171592 0.1840 None gnomAD-4.0.0 1.31525E-05
25443 39 E/Q 41 rs1707474479 0.1840 None gnomAD-3.1.2 6.58E-06
25443 39 E/Q 41 rs1707474479 0.1840 None gnomAD-4.0.0 6.57825E-06
25445 41 C/Y 43 rs2154168053 0.0633 None gnomAD-4.0.0 1.3003E-05
25447 43 V/L 50 rs374106281 0.4532 None gnomAD-2.1.1 8.05E-06
25447 43 V/L 50 rs374106281 0.4532 None gnomAD-3.1.2 6.58E-06
25447 43 V/L 50 rs374106281 0.4532 None gnomAD-4.0.0 1.30178E-05
25448 44 S/N 54 rs3813243 0.4879 None gnomAD-2.1.1 4.17349E-02
25448 44 S/N 54 rs3813243 0.4879 None gnomAD-3.1.2 4.25921E-02
25448 44 S/N 54 rs3813243 0.4879 None 1000 genomes 7.92732E-02
25448 44 S/N 54 rs3813243 0.4879 None gnomAD-4.0.0 3.04797E-02
25448 44 S/R 54 rs763099701 0.4879 None gnomAD-2.1.1 4.03E-06
25448 44 S/R 54 rs763099701 0.4879 None gnomAD-4.0.0 2.73757E-06
25450 46 G/D 63 rs748296171 0.3037 None gnomAD-2.1.1 4.03E-06
25450 46 G/D 63 rs748296171 0.3037 None gnomAD-4.0.0 7.52842E-06
25450 46 G/S 63 rs770136413 0.3037 None gnomAD-2.1.1 4.65E-05
25450 46 G/S 63 rs770136413 0.3037 None gnomAD-3.1.2 2.63E-05
25450 46 G/S 63 rs770136413 0.3037 None gnomAD-4.0.0 1.17787E-05
25451 47 E/G 64 None 0.7300 None gnomAD-4.0.0 1.20032E-06
25452 48 W/R 65 None 0.2409 None gnomAD-4.0.0 7.96115E-06
25453 49 T/I 66 rs1272812744 0.4633 None gnomAD-4.0.0 4.79098E-06
25453 49 T/K 66 rs1272812744 0.4633 None gnomAD-3.1.2 6.58E-06
25453 49 T/K 66 rs1272812744 0.4633 None gnomAD-4.0.0 1.85984E-06
25454 50 M/I 67 None 0.3314 None gnomAD-4.0.0 2.05326E-06
25454 50 M/T 67 rs1249375383 0.3314 None gnomAD-2.1.1 4.03E-06
25454 50 M/T 67 rs1249375383 0.3314 None gnomAD-3.1.2 6.58E-06
25454 50 M/T 67 rs1249375383 0.3314 None gnomAD-4.0.0 1.85976E-06
25455 51 C/Y 68 rs1179441245 0.2248 None gnomAD-2.1.1 4.03E-06
25455 51 C/Y 68 rs1179441245 0.2248 None gnomAD-3.1.2 6.58E-06
25455 51 C/Y 68 rs1179441245 0.2248 None gnomAD-4.0.0 5.12863E-06
25457 53 P/S 70 None 0.3988 None gnomAD-4.0.0 1.59254E-06
25459 55 T/I 72 None 0.7465 None gnomAD-4.0.0 1.20032E-06
25461 57 I/S 77 None 0.2202 None gnomAD-4.0.0 6.84428E-07
25461 57 I/T 77 rs781399131 0.2202 None gnomAD-2.1.1 1.43E-05
25461 57 I/T 77 rs781399131 0.2202 None gnomAD-4.0.0 4.791E-06
25461 57 I/V 77 rs1707455514 0.2202 None gnomAD-4.0.0 1.59248E-06
25464 60 T/R 89 None 0.2043 None gnomAD-4.0.0 1.20032E-06
25466 62 I/K 91 rs780302234 0.2130 None gnomAD-3.1.2 6.58E-06
25466 62 I/K 91 rs780302234 0.2130 None gnomAD-4.0.0 6.57851E-06
25466 62 I/T 91 rs780302234 0.2130 None gnomAD-4.0.0 1.36887E-06
25467 63 E/K 92 rs758729188 0.2410 None gnomAD-2.1.1 8.06E-06
25467 63 E/K 92 rs758729188 0.2410 None gnomAD-4.0.0 1.27406E-05
25468 64 V/A 93 None 0.1461 None gnomAD-4.0.0 1.59256E-06
25468 64 V/L 93 rs200308639 0.1461 None gnomAD-2.1.1 7.16E-05
25468 64 V/L 93 rs200308639 0.1461 None gnomAD-3.1.2 1.57832E-04
25468 64 V/L 93 rs200308639 0.1461 None 1000 genomes 3.99361E-04
25468 64 V/L 93 rs200308639 0.1461 None gnomAD-4.0.0 2.04562E-05
25471 67 L/M 97 None 0.1118 None gnomAD-4.0.0 2.0534E-06
25473 69 E/G 99 None 0.4491 None gnomAD-4.0.0 2.40064E-06
25474 70 K/M 100 rs1707440249 0.4366 None gnomAD-3.1.2 6.57E-06
25474 70 K/M 100 rs1707440249 0.4366 None gnomAD-4.0.0 2.56444E-06
25474 70 K/N 100 rs786205301 0.4366 None gnomAD-2.1.1 8.07E-06
25474 70 K/N 100 rs786205301 0.4366 None gnomAD-4.0.0 1.02677E-05
25475 71 H/L 102 rs375737413 0.3207 None gnomAD-4.0.0 1.59292E-06
25475 71 H/Q 102 rs1707436468 0.3207 None gnomAD-3.1.2 6.58E-06
25475 71 H/Q 102 rs1707436468 0.3207 None gnomAD-4.0.0 6.84512E-07
25475 71 H/R 102 rs375737413 0.3207 None gnomAD-4.0.0 1.59292E-06
25476 72 E/D 103 None 0.3389 None gnomAD-4.0.0 1.20032E-06
25476 72 E/K 103 rs868426391 0.3389 None gnomAD-4.0.0 1.36908E-06
25478 74 N/D 105 rs752247447 0.2941 None gnomAD-2.1.1 4.04E-06
25478 74 N/D 105 rs752247447 0.2941 None gnomAD-4.0.0 3.18589E-06
25480 76 R/C 107 rs766977350 0.1200 None gnomAD-2.1.1 1.21E-05
25480 76 R/C 107 rs766977350 0.1200 None gnomAD-4.0.0 1.16377E-05
25480 76 R/H 107 rs759416649 0.1200 None gnomAD-2.1.1 4.66E-05
25480 76 R/H 107 rs759416649 0.1200 None gnomAD-3.1.2 3.29E-05
25480 76 R/H 107 rs759416649 0.1200 None gnomAD-4.0.0 1.67413E-05
25480 76 R/P 107 None 0.1200 CNM
Literature None
25480 76 R/P 107 None 0.1200 None gnomAD-4.0.0 2.73837E-06
25481 77 I/V 108 rs1324632548 0.0754 None gnomAD-3.1.2 6.57E-06
25481 77 I/V 108 rs1324632548 0.0754 None gnomAD-4.0.0 6.57419E-06
25482 78 C/Y 109 None 0.1284 None gnomAD-4.0.0 2.0538E-06
25483 79 A/V 110 None 0.0851 None gnomAD-4.0.0 3.18723E-06
25484 80 I/T 111 rs1349741599 0.1178 None gnomAD-4.0.0 1.20032E-06
25486 82 K/N 113 None 0.5828 None gnomAD-4.0.0 1.5937E-06
25488 84 G/E 115 rs1559382837 0.1777 None gnomAD-2.1.1 4.06E-06
25488 84 G/E 115 rs1559382837 0.1777 None gnomAD-4.0.0 1.59394E-06
25488 84 G/R 115 None 0.1777 None gnomAD-4.0.0 1.20032E-06
25489 85 V/G 117 None 0.3821 None gnomAD-4.0.0 2.40064E-06
25492 88 H/L 120 rs766094077 0.4494 None gnomAD-2.1.1 4.07E-06
25492 88 H/L 120 rs766094077 0.4494 None gnomAD-4.0.0 1.59436E-06
25492 88 H/P 120 rs766094077 0.4494 None gnomAD-4.0.0 1.59436E-06
25492 88 H/Q 120 None 0.4494 None gnomAD-4.0.0 2.40064E-06
25493 89 A/D 121 rs1707414418 0.1380 None gnomAD-3.1.2 6.58E-06
25493 89 A/D 121 rs1707414418 0.1380 None gnomAD-4.0.0 6.57739E-06
25493 89 A/T 121 rs1707415905 0.1380 None gnomAD-4.0.0 1.20032E-06
25494 90 D/E 122 rs370908118 0.4964 None gnomAD-2.1.1 4.08E-06
25495 91 V/I 123 rs773127796 0.1682 None gnomAD-2.1.1 1.62802E-04
25495 91 V/I 123 rs773127796 0.1682 None gnomAD-3.1.2 4.6E-05
25495 91 V/I 123 rs773127796 0.1682 None gnomAD-4.0.0 8.56074E-05
25496 92 P/R 124 rs886039105 0.5647 None gnomAD-2.1.1 3.19E-05
25496 92 P/R 124 rs886039105 0.5647 None gnomAD-3.1.2 1.32E-05
25496 92 P/R 124 rs886039105 0.5647 None gnomAD-4.0.0 1.31555E-05
25498 94 P/A 126 rs377754701 0.5103 None gnomAD-2.1.1 8.6E-05
25498 94 P/A 126 rs377754701 0.5103 None gnomAD-3.1.2 3.29E-05
25498 94 P/A 126 rs377754701 0.5103 None 1000 genomes 5.99042E-04
25498 94 P/A 126 rs377754701 0.5103 None gnomAD-4.0.0 5.83184E-05
25498 94 P/H 126 rs374426354 0.5103 None gnomAD-4.0.0 1.37006E-06
25498 94 P/L 126 rs374426354 0.5103 None gnomAD-2.1.1 8.18E-06
25498 94 P/L 126 rs374426354 0.5103 None gnomAD-3.1.2 1.32E-05
25498 94 P/L 126 rs374426354 0.5103 None gnomAD-4.0.0 1.42696E-05
25498 94 P/S 126 rs377754701 0.5103 None gnomAD-2.1.1 4.09E-06
25498 94 P/S 126 rs377754701 0.5103 None gnomAD-3.1.2 1.32E-05
25498 94 P/S 126 rs377754701 0.5103 None gnomAD-4.0.0 1.86136E-06
25498 94 P/T 126 None 0.5103 None gnomAD-4.0.0 7.53565E-06
25499 95 I/L 127 None 0.1479 None gnomAD-4.0.0 1.20032E-06
25500 96 I/M 129 rs1707397536 0.3404 None gnomAD-3.1.2 6.58E-06
25500 96 I/M 129 rs1707397536 0.3404 None gnomAD-4.0.0 6.57505E-06
25500 96 I/T 129 rs1485761373 0.3404 None gnomAD-2.1.1 4.09E-06
25500 96 I/T 129 rs1485761373 0.3404 None gnomAD-4.0.0 6.38246E-06
25501 97 V/A 130 rs768730615 0.0836 None gnomAD-2.1.1 4.1E-06
25501 97 V/A 130 rs768730615 0.0836 None gnomAD-4.0.0 1.3701E-06
25501 97 V/D 130 None 0.0836 None gnomAD-4.0.0 6.85049E-07
25501 97 V/I 130 rs1266584718 0.0836 None gnomAD-2.1.1 1.45E-05
25501 97 V/I 130 rs1266584718 0.0836 None gnomAD-3.1.2 6.58E-06
25501 97 V/I 130 rs1266584718 0.0836 None gnomAD-4.0.0 4.96343E-06