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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
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
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25406 2 P/Q 2 None 0.3037 None gnomAD-4.0.0 3.60097E-06
25406 2 P/R 2 rs771016168 0.3037 None gnomAD-2.1.1 4.03E-06
25408 4 P/H 4 None 0.3940 None gnomAD-4.0.0 2.40064E-06
25408 4 P/L 4 None 0.3940 None gnomAD-4.0.0 1.20032E-06
25409 5 P/A 5 None 0.1864 None gnomAD-4.0.0 1.59212E-06
25409 5 P/L 5 rs1707518545 0.1864 None gnomAD-4.0.0 5.47497E-06
25410 6 N/D 6 rs749561648 0.4582 None gnomAD-2.1.1 4.03E-06
25410 6 N/D 6 rs749561648 0.4582 None gnomAD-4.0.0 1.16341E-05
25410 6 N/I 6 rs397517706 0.4582 None gnomAD-2.1.1 4.03E-06
25410 6 N/I 6 rs397517706 0.4582 None gnomAD-4.0.0 4.77622E-06
25410 6 N/K 6 None 0.4582 None gnomAD-4.0.0 3.60097E-06
25413 9 K/E 11 None 0.4126 None gnomAD-4.0.0 1.20032E-06
25413 9 K/R 11 rs367696053 0.4126 None gnomAD-2.1.1 8.06E-06
25413 9 K/R 11 rs367696053 0.4126 None gnomAD-4.0.0 2.05305E-06
25415 11 I/R 13 rs748670245 0.4337 None gnomAD-2.1.1 4.03E-06
25415 11 I/R 13 rs748670245 0.4337 None gnomAD-4.0.0 8.89644E-06
25415 11 I/T 13 rs748670245 0.4337 None gnomAD-4.0.0 2.73737E-06
25415 11 I/V 13 rs1707513771 0.4337 None gnomAD-4.0.0 1.20032E-06
25416 12 D/E 14 rs781781445 0.5338 None gnomAD-2.1.1 7.15E-06
25416 12 D/E 14 rs781781445 0.5338 None gnomAD-3.1.2 1.32E-05
25416 12 D/E 14 rs781781445 0.5338 None gnomAD-4.0.0 4.95884E-06
25417 13 I/L 15 None 0.3859 None gnomAD-4.0.0 6.84338E-07
25417 13 I/V 15 rs755528335 0.3859 None gnomAD-2.1.1 1.61E-05
25417 13 I/V 15 rs755528335 0.3859 None gnomAD-3.1.2 6.58E-06
25417 13 I/V 15 rs755528335 0.3859 None gnomAD-4.0.0 3.71896E-06
25419 15 R/K 17 rs1427806281 0.6543 None gnomAD-2.1.1 4.03E-06
25419 15 R/K 17 rs1427806281 0.6543 None gnomAD-4.0.0 1.59199E-06
25422 18 V/L 20 rs751917176 0.1393 None gnomAD-2.1.1 8.05E-06
25422 18 V/L 20 rs751917176 0.1393 None gnomAD-4.0.0 2.73731E-06
25423 19 F/L 21 rs1034189654 0.2804 None gnomAD-4.0.0 1.20032E-06
25426 22 W/S 24 None 0.1513 None gnomAD-4.0.0 1.59191E-06
25427 23 S/G 25 rs1412222189 0.2717 None gnomAD-3.1.2 6.58E-06
25427 23 S/G 25 rs1412222189 0.2717 None gnomAD-4.0.0 6.57635E-06
25427 23 S/N 25 rs1171926149 0.2717 None gnomAD-3.1.2 1.32E-05
25427 23 S/N 25 rs1171926149 0.2717 None gnomAD-4.0.0 1.31551E-05
25428 24 K/R 26 rs1264945919 0.8063 None gnomAD-2.1.1 4.02E-06
25428 24 K/R 26 rs1264945919 0.8063 None gnomAD-4.0.0 1.59186E-06
25429 25 P/R 27 None 0.2394 None gnomAD-4.0.0 1.20032E-06
25429 25 P/T 27 rs1707494273 0.2394 None gnomAD-4.0.0 1.59191E-06
25430 26 I/M 28 None 1.0134 None gnomAD-4.0.0 1.59184E-06
25430 26 I/T 28 rs2154168088 1.0134 None gnomAD-4.0.0 4.8013E-06
25430 26 I/V 28 rs756888687 1.0134 None gnomAD-2.1.1 1.07E-05
25430 26 I/V 28 rs756888687 1.0134 None gnomAD-3.1.2 1.32E-05
25430 26 I/V 28 rs756888687 1.0134 None gnomAD-4.0.0 5.12638E-06
25431 27 Y/C 29 rs79906856 0.2918 None gnomAD-2.1.1 1.61E-05
25431 27 Y/C 29 rs79906856 0.2918 None gnomAD-3.1.2 1.97E-05
25431 27 Y/C 29 rs79906856 0.2918 None 1000 genomes 1.99681E-04
25431 27 Y/C 29 rs79906856 0.2918 None gnomAD-4.0.0 1.61139E-05
25431 27 Y/H 29 None 0.2918 None gnomAD-4.0.0 8.21181E-06
25431 27 Y/N 29 rs1488563673 0.2918 None gnomAD-2.1.1 4.02E-06
25431 27 Y/N 29 rs1488563673 0.2918 None gnomAD-4.0.0 6.84317E-07
25432 28 D/G 30 rs760107858 0.2709 None gnomAD-2.1.1 1.61E-05
25432 28 D/G 30 rs760107858 0.2709 None gnomAD-4.0.0 3.18365E-06
25433 29 G/D 31 None 0.1350 None gnomAD-4.0.0 3.18373E-06
25434 30 G/D 32 rs774972434 0.5400 None gnomAD-2.1.1 8.85E-05
25434 30 G/D 32 rs774972434 0.5400 None gnomAD-3.1.2 6.58E-06
25434 30 G/D 32 rs774972434 0.5400 None gnomAD-4.0.0 2.10742E-05
25434 30 G/R 32 None 0.5400 None gnomAD-4.0.0 2.40064E-06
25435 31 C/G 33 rs1329731754 0.3539 None gnomAD-2.1.1 4.02E-06
25435 31 C/G 33 rs1329731754 0.3539 None gnomAD-4.0.0 1.59187E-06
25435 31 C/Y 33 rs767496380 0.3539 None gnomAD-2.1.1 4.02E-06
25435 31 C/Y 33 rs767496380 0.3539 None gnomAD-4.0.0 2.40064E-06
25438 34 Q/P 36 rs1707482810 0.6649 None gnomAD-4.0.0 1.5919E-06
25439 35 G/R 37 None 0.2490 None gnomAD-4.0.0 1.59198E-06
25440 36 Y/H 38 rs1387581169 0.1938 None gnomAD-2.1.1 4.02E-06
25440 36 Y/H 38 rs1387581169 0.1938 None gnomAD-3.1.2 6.58E-06
25440 36 Y/H 38 rs1387581169 0.1938 None gnomAD-4.0.0 2.56341E-06
25441 37 I/V 39 rs759489696 0.3155 None gnomAD-2.1.1 4.02E-06
25441 37 I/V 39 rs759489696 0.3155 None gnomAD-3.1.2 6.58E-06
25441 37 I/V 39 rs759489696 0.3155 None gnomAD-4.0.0 4.33889E-06
25442 38 V/A 40 rs1707475730 0.1288 None gnomAD-3.1.2 6.58E-06
25442 38 V/A 40 rs1707475730 0.1288 None gnomAD-4.0.0 2.5637E-06
25442 38 V/L 40 rs1217166434 0.1288 None gnomAD-2.1.1 3.19E-05
25442 38 V/L 40 rs1217166434 0.1288 None gnomAD-3.1.2 6.58E-06
25442 38 V/L 40 rs1217166434 0.1288 None gnomAD-4.0.0 6.57886E-06
25443 39 E/G 41 rs879171592 0.1738 None gnomAD-2.1.1 4.03E-06
25443 39 E/G 41 rs879171592 0.1738 None gnomAD-3.1.2 1.32E-05
25443 39 E/G 41 rs879171592 0.1738 None gnomAD-4.0.0 1.31525E-05
25443 39 E/Q 41 rs1707474479 0.1738 None gnomAD-3.1.2 6.58E-06
25443 39 E/Q 41 rs1707474479 0.1738 None gnomAD-4.0.0 6.57825E-06
25445 41 C/Y 43 rs2154168053 0.0854 None gnomAD-4.0.0 1.3003E-05
25447 43 V/L 50 rs374106281 0.4094 None gnomAD-2.1.1 8.05E-06
25447 43 V/L 50 rs374106281 0.4094 None gnomAD-3.1.2 6.58E-06
25447 43 V/L 50 rs374106281 0.4094 None gnomAD-4.0.0 1.30178E-05
25448 44 S/N 54 rs3813243 0.5749 None gnomAD-2.1.1 4.17349E-02
25448 44 S/N 54 rs3813243 0.5749 None gnomAD-3.1.2 4.25921E-02
25448 44 S/N 54 rs3813243 0.5749 None 1000 genomes 7.92732E-02
25448 44 S/N 54 rs3813243 0.5749 None gnomAD-4.0.0 3.04797E-02
25448 44 S/R 54 rs763099701 0.5749 None gnomAD-2.1.1 4.03E-06
25448 44 S/R 54 rs763099701 0.5749 None gnomAD-4.0.0 2.73757E-06
25450 46 G/D 63 rs748296171 0.4214 None gnomAD-2.1.1 4.03E-06
25450 46 G/D 63 rs748296171 0.4214 None gnomAD-4.0.0 7.52842E-06
25450 46 G/S 63 rs770136413 0.4214 None gnomAD-2.1.1 4.65E-05
25450 46 G/S 63 rs770136413 0.4214 None gnomAD-3.1.2 2.63E-05
25450 46 G/S 63 rs770136413 0.4214 None gnomAD-4.0.0 1.17787E-05
25451 47 E/G 64 None 0.7194 None gnomAD-4.0.0 1.20032E-06
25452 48 W/R 65 None 0.3378 None gnomAD-4.0.0 7.96115E-06
25453 49 T/I 66 rs1272812744 0.4065 None gnomAD-4.0.0 4.79098E-06
25453 49 T/K 66 rs1272812744 0.4065 None gnomAD-3.1.2 6.58E-06
25453 49 T/K 66 rs1272812744 0.4065 None gnomAD-4.0.0 1.85984E-06
25454 50 M/I 67 None 0.3072 None gnomAD-4.0.0 2.05326E-06
25454 50 M/T 67 rs1249375383 0.3072 None gnomAD-2.1.1 4.03E-06
25454 50 M/T 67 rs1249375383 0.3072 None gnomAD-3.1.2 6.58E-06
25454 50 M/T 67 rs1249375383 0.3072 None gnomAD-4.0.0 1.85976E-06
25455 51 C/Y 68 rs1179441245 0.2985 None gnomAD-2.1.1 4.03E-06
25455 51 C/Y 68 rs1179441245 0.2985 None gnomAD-3.1.2 6.58E-06
25455 51 C/Y 68 rs1179441245 0.2985 None gnomAD-4.0.0 5.12863E-06
25457 53 P/S 70 None 0.4239 None gnomAD-4.0.0 1.59254E-06
25459 55 T/I 72 None 0.7675 None gnomAD-4.0.0 1.20032E-06
25461 57 I/S 77 None 0.2571 None gnomAD-4.0.0 6.84428E-07
25461 57 I/T 77 rs781399131 0.2571 None gnomAD-2.1.1 1.43E-05
25461 57 I/T 77 rs781399131 0.2571 None gnomAD-4.0.0 4.791E-06
25461 57 I/V 77 rs1707455514 0.2571 None gnomAD-4.0.0 1.59248E-06
25464 60 T/R 89 None 0.2409 None gnomAD-4.0.0 1.20032E-06
25466 62 I/K 91 rs780302234 0.3186 None gnomAD-3.1.2 6.58E-06
25466 62 I/K 91 rs780302234 0.3186 None gnomAD-4.0.0 6.57851E-06
25466 62 I/T 91 rs780302234 0.3186 None gnomAD-4.0.0 1.36887E-06
25467 63 E/K 92 rs758729188 0.3489 None gnomAD-2.1.1 8.06E-06
25467 63 E/K 92 rs758729188 0.3489 None gnomAD-4.0.0 1.27406E-05
25468 64 V/A 93 None 0.1938 None gnomAD-4.0.0 1.59256E-06
25468 64 V/L 93 rs200308639 0.1938 None gnomAD-2.1.1 7.16E-05
25468 64 V/L 93 rs200308639 0.1938 None gnomAD-3.1.2 1.57832E-04
25468 64 V/L 93 rs200308639 0.1938 None 1000 genomes 3.99361E-04
25468 64 V/L 93 rs200308639 0.1938 None gnomAD-4.0.0 2.04562E-05
25471 67 L/M 97 None 0.1580 None gnomAD-4.0.0 2.0534E-06
25473 69 E/G 99 None 0.4134 None gnomAD-4.0.0 2.40064E-06
25474 70 K/M 100 rs1707440249 0.6261 None gnomAD-3.1.2 6.57E-06
25474 70 K/M 100 rs1707440249 0.6261 None gnomAD-4.0.0 2.56444E-06
25474 70 K/N 100 rs786205301 0.6261 None gnomAD-2.1.1 8.07E-06
25474 70 K/N 100 rs786205301 0.6261 None gnomAD-4.0.0 1.02677E-05
25475 71 H/L 102 rs375737413 0.4173 None gnomAD-4.0.0 1.59292E-06
25475 71 H/Q 102 rs1707436468 0.4173 None gnomAD-3.1.2 6.58E-06
25475 71 H/Q 102 rs1707436468 0.4173 None gnomAD-4.0.0 6.84512E-07
25475 71 H/R 102 rs375737413 0.4173 None gnomAD-4.0.0 1.59292E-06
25476 72 E/D 103 None 0.3786 None gnomAD-4.0.0 1.20032E-06
25476 72 E/K 103 rs868426391 0.3786 None gnomAD-4.0.0 1.36908E-06
25478 74 N/D 105 rs752247447 0.3052 None gnomAD-2.1.1 4.04E-06
25478 74 N/D 105 rs752247447 0.3052 None gnomAD-4.0.0 3.18589E-06
25480 76 R/C 107 rs766977350 0.1725 None gnomAD-2.1.1 1.21E-05
25480 76 R/C 107 rs766977350 0.1725 None gnomAD-4.0.0 1.16377E-05
25480 76 R/H 107 rs759416649 0.1725 None gnomAD-2.1.1 4.66E-05
25480 76 R/H 107 rs759416649 0.1725 None gnomAD-3.1.2 3.29E-05
25480 76 R/H 107 rs759416649 0.1725 None gnomAD-4.0.0 1.67413E-05
25480 76 R/P 107 None 0.1725 CNM
Literature None
25480 76 R/P 107 None 0.1725 None gnomAD-4.0.0 2.73837E-06
25481 77 I/V 108 rs1324632548 0.0904 None gnomAD-3.1.2 6.57E-06
25481 77 I/V 108 rs1324632548 0.0904 None gnomAD-4.0.0 6.57419E-06
25482 78 C/Y 109 None 0.1676 None gnomAD-4.0.0 2.0538E-06
25483 79 A/V 110 None 0.1488 None gnomAD-4.0.0 3.18723E-06
25484 80 I/T 111 rs1349741599 0.3285 None gnomAD-4.0.0 1.20032E-06
25486 82 K/N 113 None 0.9221 None gnomAD-4.0.0 1.5937E-06
25488 84 G/E 115 rs1559382837 0.3303 None gnomAD-2.1.1 4.06E-06
25488 84 G/E 115 rs1559382837 0.3303 None gnomAD-4.0.0 1.59394E-06
25488 84 G/R 115 None 0.3303 None gnomAD-4.0.0 1.20032E-06
25489 85 V/G 117 None 0.6688 None gnomAD-4.0.0 2.40064E-06
25492 88 H/L 120 rs766094077 0.6387 None gnomAD-2.1.1 4.07E-06
25492 88 H/L 120 rs766094077 0.6387 None gnomAD-4.0.0 1.59436E-06
25492 88 H/P 120 rs766094077 0.6387 None gnomAD-4.0.0 1.59436E-06
25492 88 H/Q 120 None 0.6387 None gnomAD-4.0.0 2.40064E-06
25493 89 A/D 121 rs1707414418 0.1944 None gnomAD-3.1.2 6.58E-06
25493 89 A/D 121 rs1707414418 0.1944 None gnomAD-4.0.0 6.57739E-06
25493 89 A/T 121 rs1707415905 0.1944 None gnomAD-4.0.0 1.20032E-06
25494 90 D/E 122 rs370908118 0.6022 None gnomAD-2.1.1 4.08E-06
25495 91 V/I 123 rs773127796 0.1896 None gnomAD-2.1.1 1.62802E-04
25495 91 V/I 123 rs773127796 0.1896 None gnomAD-3.1.2 4.6E-05
25495 91 V/I 123 rs773127796 0.1896 None gnomAD-4.0.0 8.56074E-05
25496 92 P/R 124 rs886039105 0.7469 None gnomAD-2.1.1 3.19E-05
25496 92 P/R 124 rs886039105 0.7469 None gnomAD-3.1.2 1.32E-05
25496 92 P/R 124 rs886039105 0.7469 None gnomAD-4.0.0 1.31555E-05
25498 94 P/A 126 rs377754701 0.4713 None gnomAD-2.1.1 8.6E-05
25498 94 P/A 126 rs377754701 0.4713 None gnomAD-3.1.2 3.29E-05
25498 94 P/A 126 rs377754701 0.4713 None 1000 genomes 5.99042E-04
25498 94 P/A 126 rs377754701 0.4713 None gnomAD-4.0.0 5.83184E-05
25498 94 P/H 126 rs374426354 0.4713 None gnomAD-4.0.0 1.37006E-06
25498 94 P/L 126 rs374426354 0.4713 None gnomAD-2.1.1 8.18E-06
25498 94 P/L 126 rs374426354 0.4713 None gnomAD-3.1.2 1.32E-05
25498 94 P/L 126 rs374426354 0.4713 None gnomAD-4.0.0 1.42696E-05
25498 94 P/S 126 rs377754701 0.4713 None gnomAD-2.1.1 4.09E-06
25498 94 P/S 126 rs377754701 0.4713 None gnomAD-3.1.2 1.32E-05
25498 94 P/S 126 rs377754701 0.4713 None gnomAD-4.0.0 1.86136E-06
25498 94 P/T 126 None 0.4713 None gnomAD-4.0.0 7.53565E-06
25499 95 I/L 127 None 0.2259 None gnomAD-4.0.0 1.20032E-06
25500 96 I/M 129 rs1707397536 0.5482 None gnomAD-3.1.2 6.58E-06
25500 96 I/M 129 rs1707397536 0.5482 None gnomAD-4.0.0 6.57505E-06
25500 96 I/T 129 rs1485761373 0.5482 None gnomAD-2.1.1 4.09E-06
25500 96 I/T 129 rs1485761373 0.5482 None gnomAD-4.0.0 6.38246E-06
25501 97 V/A 130 rs768730615 0.1191 None gnomAD-2.1.1 4.1E-06
25501 97 V/A 130 rs768730615 0.1191 None gnomAD-4.0.0 1.3701E-06
25501 97 V/D 130 None 0.1191 None gnomAD-4.0.0 6.85049E-07
25501 97 V/I 130 rs1266584718 0.1191 None gnomAD-2.1.1 1.45E-05
25501 97 V/I 130 rs1266584718 0.1191 None gnomAD-3.1.2 6.58E-06
25501 97 V/I 130 rs1266584718 0.1191 None gnomAD-4.0.0 4.96343E-06