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

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
7324 2 Y/C 2 None 0.4456 None gnomAD-4.0.0 6.85872E-07
7324 2 Y/D 2 rs765632650 0.4456 None gnomAD-2.1.1 1.45E-05
7324 2 Y/D 2 rs765632650 0.4456 None gnomAD-3.1.2 1.97E-05
7324 2 Y/D 2 rs765632650 0.4456 None gnomAD-4.0.0 2.11223E-05
7325 3 F/L 3 None 0.1958 None gnomAD-4.0.0 1.60027E-06
7325 3 F/V 3 None 0.1958 None gnomAD-4.0.0 6.8582E-07
7327 5 T/M 5 rs727504975 0.4734 None gnomAD-2.1.1 1.55155E-04
7327 5 T/M 5 rs727504975 0.4734 None gnomAD-3.1.2 6.58E-05
7327 5 T/M 5 rs727504975 0.4734 None gnomAD-4.0.0 8.75246E-05
7329 7 L/P 8 rs1347470734 0.1609 None gnomAD-2.1.1 4.07E-06
7329 7 L/P 8 rs1347470734 0.1609 None gnomAD-3.1.2 6.57E-06
7329 7 L/P 8 rs1347470734 0.1609 None gnomAD-4.0.0 6.20374E-06
7329 7 L/Q 8 rs1347470734 0.1609 None gnomAD-3.1.2 6.57E-06
7329 7 L/Q 8 rs1347470734 0.1609 None gnomAD-4.0.0 6.57212E-06
7331 9 P/H 11 rs1301921042 0.6364 None gnomAD-3.1.2 6.57E-06
7331 9 P/H 11 rs1301921042 0.6364 None gnomAD-4.0.0 6.57428E-06
7331 9 P/L 11 None 0.6364 None gnomAD-4.0.0 6.84741E-07
7331 9 P/T 11 rs2078660887 0.6364 None gnomAD-3.1.2 6.57E-06
7331 9 P/T 11 rs2078660887 0.6364 None gnomAD-4.0.0 6.57471E-06
7332 10 L/Q 13 rs369522109 0.2871 None gnomAD-2.1.1 2.43E-05
7332 10 L/Q 13 rs369522109 0.2871 None gnomAD-3.1.2 8.54E-05
7332 10 L/Q 13 rs369522109 0.2871 None gnomAD-4.0.0 1.36422E-05
7333 11 E/G 14 None 0.5369 None gnomAD-4.0.0 1.59401E-06
7333 11 E/Q 14 None 0.5369 None gnomAD-4.0.0 1.59407E-06
7334 12 A/V 16 None 0.1975 None gnomAD-4.0.0 1.20032E-06
7335 13 A/T 18 rs1208605882 0.2768 None gnomAD-2.1.1 3.19E-05
7335 13 A/T 18 rs1208605882 0.2768 None gnomAD-3.1.2 6.58E-06
7335 13 A/T 18 rs1208605882 0.2768 None gnomAD-4.0.0 4.0601E-06
7336 14 V/A 23 rs1323509026 0.5305 None gnomAD-2.1.1 3.19E-05
7338 16 D/N 25 rs773799312 0.4070 None gnomAD-2.1.1 2.43E-05
7338 16 D/N 25 rs773799312 0.4070 None gnomAD-4.0.0 1.43404E-05
7338 16 D/V 25 rs770976572 0.4070 None gnomAD-2.1.1 4.04E-06
7338 16 D/V 25 rs770976572 0.4070 None gnomAD-3.1.2 6.58E-06
7339 17 S/L 26 rs72648966 0.5145 None gnomAD-2.1.1 2.02E-05
7339 17 S/L 26 rs72648966 0.5145 None gnomAD-3.1.2 1.32E-05
7339 17 S/L 26 rs72648966 0.5145 None gnomAD-4.0.0 9.92094E-06
7340 18 V/D 28 None 0.2330 None gnomAD-4.0.0 1.20032E-06
7340 18 V/I 28 rs566468573 0.2330 None gnomAD-2.1.1 1.09162E-04
7340 18 V/I 28 rs566468573 0.2330 None gnomAD-3.1.2 1.32E-05
7340 18 V/I 28 rs566468573 0.2330 None gnomAD-4.0.0 5.27016E-05
7341 19 S/Y 29 rs1474346427 0.3188 None gnomAD-2.1.1 4.04E-06
7341 19 S/Y 29 rs1474346427 0.3188 None gnomAD-4.0.0 1.59317E-06
7342 20 L/V 30 rs1243764269 0.1861 None gnomAD-2.1.1 4.04E-06
7342 20 L/V 30 rs1243764269 0.1861 None gnomAD-4.0.0 4.77925E-06
7343 21 Q/K 31 rs886043434 0.4599 None gnomAD-4.0.0 1.59307E-06
7343 21 Q/R 31 rs1215230781 0.4599 None gnomAD-4.0.0 1.59294E-06
7345 23 Q/R 34 rs1224196588 0.1640 None gnomAD-2.1.1 4.03E-06
7345 23 Q/R 34 rs1224196588 0.1640 None gnomAD-3.1.2 6.57E-06
7345 23 Q/R 34 rs1224196588 0.1640 None gnomAD-4.0.0 3.84653E-06
7346 24 V/A 35 rs1253051189 0.1215 None gnomAD-3.1.2 1.31E-05
7346 24 V/A 35 rs1253051189 0.1215 None gnomAD-4.0.0 2.47973E-06
7347 25 A/G 38 rs1359754877 0.1890 None gnomAD-2.1.1 8.07E-06
7347 25 A/G 38 rs1359754877 0.1890 None gnomAD-4.0.0 8.21399E-06
7347 25 A/S 38 None 0.1890 None gnomAD-4.0.0 2.05346E-06
7347 25 A/T 38 rs1553911494 0.1890 None gnomAD-4.0.0 6.84487E-07
7348 26 G/E 40 None 0.2641 None gnomAD-4.0.0 6.84505E-07
7348 26 G/R 40 rs1273201877 0.2641 None gnomAD-2.1.1 4.03E-06
7350 28 P/A 42 rs2078649611 0.3872 None gnomAD-3.1.2 6.58E-06
7350 28 P/A 42 rs2078649611 0.3872 None gnomAD-4.0.0 2.5642E-06
7350 28 P/Q 42 rs1467666220 0.3872 None gnomAD-3.1.2 6.58E-06
7350 28 P/Q 42 rs1467666220 0.3872 None gnomAD-4.0.0 2.56447E-06
7353 31 T/R 45 None 0.5703 None gnomAD-4.0.0 1.59249E-06
7354 32 V/A 46 rs1191619826 0.2761 None gnomAD-3.1.2 6.58E-06
7354 32 V/A 46 rs1191619826 0.2761 None gnomAD-4.0.0 6.57531E-06
7355 33 S/P 47 None 0.2164 None gnomAD-4.0.0 1.20032E-06
7356 34 W/C 48 rs908134644 0.1556 None gnomAD-3.1.2 1.32E-05
7356 34 W/C 48 rs908134644 0.1556 None gnomAD-4.0.0 6.41037E-06
7356 34 W/L 48 None 0.1556 None gnomAD-4.0.0 1.59246E-06
7358 36 K/R 50 rs1271277715 0.1795 None gnomAD-2.1.1 4.03E-06
7358 36 K/R 50 rs1271277715 0.1795 None gnomAD-4.0.0 1.59235E-06
7360 38 D/V 52 None 1.0612 None gnomAD-4.0.0 1.36879E-06
7361 39 T/A 55 None 0.6094 None gnomAD-4.0.0 3.60098E-06
7361 39 T/N 55 rs1425492375 0.6094 None gnomAD-2.1.1 4.03E-06
7361 39 T/N 55 rs1425492375 0.6094 None gnomAD-4.0.0 4.7767E-06
7362 40 K/E 56 None 0.3818 None gnomAD-4.0.0 1.59219E-06
7364 42 R/P 59 rs200128066 0.9112 None gnomAD-4.0.0 6.8439E-07
7364 42 R/Q 59 rs200128066 0.9112 None gnomAD-2.1.1 4.65E-05
7364 42 R/Q 59 rs200128066 0.9112 None gnomAD-3.1.2 9.87E-05
7364 42 R/Q 59 rs200128066 0.9112 None gnomAD-4.0.0 8.12105E-05
7364 42 R/W 59 rs397517500 0.9112 None gnomAD-2.1.1 9.65E-05
7364 42 R/W 59 rs397517500 0.9112 None gnomAD-3.1.2 1.18418E-04
7364 42 R/W 59 rs397517500 0.9112 None gnomAD-4.0.0 6.50913E-05
7366 44 T/S 73 None 0.2334 None gnomAD-4.0.0 1.36875E-06
7368 46 E/A 115 rs1420368632 0.2540 None gnomAD-2.1.1 8.05E-06
7368 46 E/A 115 rs1420368632 0.2540 None gnomAD-3.1.2 6.58E-06
7368 46 E/A 115 rs1420368632 0.2540 None gnomAD-4.0.0 8.6782E-06
7368 46 E/Q 115 None 0.2540 None gnomAD-4.0.0 1.20032E-06
7371 49 T/A 123 rs1381030080 0.3282 None gnomAD-3.1.2 6.57E-06
7371 49 T/A 123 rs1381030080 0.3282 None gnomAD-4.0.0 1.42567E-05
7371 49 T/I 123 rs794729626 0.3282 None gnomAD-2.1.1 1.07E-05
7371 49 T/I 123 rs794729626 0.3282 None gnomAD-3.1.2 2.63E-05
7371 49 T/I 123 rs794729626 0.3282 None gnomAD-4.0.0 4.95917E-06
7371 49 T/N 123 None 0.3282 None gnomAD-4.0.0 6.84397E-07
7372 50 Y/F 125 None 0.5475 None gnomAD-4.0.0 1.20032E-06
7372 50 Y/H 125 rs1451672081 0.5475 None gnomAD-2.1.1 3.19E-05
7372 50 Y/H 125 rs1451672081 0.5475 None gnomAD-3.1.2 6.58E-06
7372 50 Y/H 125 rs1451672081 0.5475 None gnomAD-4.0.0 2.03005E-06
7373 51 F/L 127 None 0.3336 None gnomAD-4.0.0 2.40064E-06
7374 52 T/A 130 None 0.6090 None gnomAD-4.0.0 1.20032E-06
7374 52 T/I 130 rs879022559 0.6090 None gnomAD-2.1.1 7.15E-06
7374 52 T/I 130 rs879022559 0.6090 None gnomAD-3.1.2 6.58E-06
7374 52 T/I 130 rs879022559 0.6090 None gnomAD-4.0.0 2.47957E-06
7375 53 N/K 131 rs750961839 0.8954 None gnomAD-2.1.1 4.03E-06
7375 53 N/K 131 rs750961839 0.8954 None gnomAD-3.1.2 6.58E-06
7375 53 N/K 131 rs750961839 0.8954 None gnomAD-4.0.0 6.57774E-06
7376 54 N/S 134 rs765538868 0.3821 None gnomAD-2.1.1 1.21E-05
7376 54 N/S 134 rs765538868 0.3821 None gnomAD-3.1.2 6.58E-06
7376 54 N/S 134 rs765538868 0.3821 None gnomAD-4.0.0 2.56393E-06
7377 55 V/M 135 rs1490395674 0.2656 None gnomAD-2.1.1 8.06E-06
7377 55 V/M 135 rs1490395674 0.2656 None gnomAD-4.0.0 4.77704E-06
7378 56 A/T 136 rs879099986 0.0956 None gnomAD-3.1.2 6.58E-06
7378 56 A/T 136 rs879099986 0.0956 None gnomAD-4.0.0 9.91838E-06
7379 57 T/A 137 None 0.1578 None gnomAD-4.0.0 1.20032E-06
7380 58 L/F 138 rs1322468244 0.0887 None gnomAD-4.0.0 2.73776E-06
7380 58 L/I 138 rs1322468244 0.0887 None gnomAD-2.1.1 3.19E-05
7380 58 L/R 138 rs1273455014 0.0887 None gnomAD-3.1.2 6.57E-06
7380 58 L/R 138 rs1273455014 0.0887 None gnomAD-4.0.0 6.5722E-06
7381 59 V/L 139 rs762179106 0.2369 None gnomAD-2.1.1 4.03E-06
7381 59 V/L 139 rs762179106 0.2369 None gnomAD-3.1.2 6.58E-06
7381 59 V/L 139 rs762179106 0.2369 None gnomAD-4.0.0 6.57549E-06
7383 61 N/S 141 rs562295146 0.4704 None gnomAD-2.1.1 1.07E-05
7383 61 N/S 141 rs562295146 0.4704 None gnomAD-3.1.2 4.6E-05
7383 61 N/S 141 rs562295146 0.4704 None 1000 genomes 1.99681E-04
7383 61 N/S 141 rs562295146 0.4704 None gnomAD-4.0.0 1.02536E-05
7385 63 V/L 144 rs1273152724 0.1039 None gnomAD-2.1.1 4.03E-06
7385 63 V/L 144 rs1273152724 0.1039 None gnomAD-4.0.0 1.59266E-06
7386 64 N/S 145 None 0.4321 None gnomAD-4.0.0 1.20032E-06
7387 65 I/L 146 rs1322069971 0.4902 None gnomAD-2.1.1 4.03E-06
7387 65 I/L 146 rs1322069971 0.4902 None gnomAD-4.0.0 3.18529E-06
7387 65 I/S 146 rs759166844 0.4902 None gnomAD-2.1.1 1.21E-05
7387 65 I/S 146 rs759166844 0.4902 None gnomAD-4.0.0 4.77812E-06
7388 66 N/K 148 None 0.6823 None gnomAD-4.0.0 6.8448E-07
7388 66 N/S 148 rs1350328102 0.6823 None gnomAD-2.1.1 4.04E-06
7388 66 N/S 148 rs1350328102 0.6823 None gnomAD-4.0.0 1.36894E-05
7389 67 D/E 149 None 0.1689 None gnomAD-4.0.0 1.59282E-06
7391 69 G/R 152 None 0.2458 None gnomAD-4.0.0 3.42254E-06
7392 70 E/D 153 rs2078620935 0.3720 None gnomAD-4.0.0 2.05348E-06
7393 71 Y/D 154 rs1185905654 0.1277 None gnomAD-3.1.2 6.58E-06
7393 71 Y/D 154 rs1185905654 0.1277 None gnomAD-4.0.0 6.57748E-06
7394 72 T/K 155 None 0.1717 None gnomAD-4.0.0 1.20033E-06
7395 73 C/R 156 None 0.0820 None gnomAD-4.0.0 2.40064E-06
7396 74 K/E 157 None 0.2685 None gnomAD-4.0.0 3.18563E-06
7397 75 A/T 158 rs1444697526 0.0980 None gnomAD-2.1.1 4.04E-06
7397 75 A/T 158 rs1444697526 0.0980 None gnomAD-4.0.0 1.59296E-06
7400 78 S/G 162 None 0.5783 None gnomAD-4.0.0 1.59289E-06
7403 81 T/I 165 None 0.5311 None gnomAD-4.0.0 1.59318E-06
7403 81 T/N 165 rs2078617852 0.5311 None gnomAD-3.1.2 6.57E-06
7403 81 T/N 165 rs2078617852 0.5311 None gnomAD-4.0.0 6.57402E-06
7404 82 A/S 166 None 0.2049 None gnomAD-4.0.0 6.84774E-07
7404 82 A/T 166 None 0.2049 None gnomAD-4.0.0 6.84774E-07
7405 83 S/F 168 rs794729627 0.3554 None gnomAD-4.0.0 2.05445E-06
7406 84 S/F 169 rs2078615661 0.1276 None gnomAD-3.1.2 6.57E-06
7406 84 S/F 169 rs2078615661 0.1276 None gnomAD-4.0.0 6.57402E-06
7406 84 S/P 169 rs371525576 0.1276 None gnomAD-2.1.1 4.05E-06
7406 84 S/P 169 rs371525576 0.1276 None gnomAD-3.1.2 1.31E-05
7406 84 S/P 169 rs371525576 0.1276 None gnomAD-4.0.0 5.13246E-06
7407 85 K/N 171 rs548543520 0.4198 None gnomAD-2.1.1 4.05E-06
7407 85 K/N 171 rs548543520 0.4198 None gnomAD-3.1.2 6.57E-06
7407 85 K/N 171 rs548543520 0.4198 None 1000 genomes 1.99681E-04
7407 85 K/N 171 rs548543520 0.4198 None gnomAD-4.0.0 4.05938E-06
7407 85 K/R 171 None 0.4198 None gnomAD-4.0.0 1.20033E-06
7408 86 T/I 172 None 0.1430 None gnomAD-4.0.0 2.40066E-06
7410 88 F/L 174 rs747973968 0.1412 None gnomAD-2.1.1 4.08E-06
7410 88 F/L 174 rs747973968 0.1412 None gnomAD-3.1.2 1.31E-05
7410 88 F/L 174 rs747973968 0.1412 None gnomAD-4.0.0 6.86648E-07
7411 89 R/G 175 rs780911294 0.5353 None gnomAD-2.1.1 4.1E-06
7411 89 R/G 175 rs780911294 0.5353 None gnomAD-4.0.0 1.60747E-06