Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 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 E R Q L P P S F A R Q L K D I E Q T V G L P V T L T C R L N G S A P I Q V C W Y R D G V L L R D D E N L Q T S F V D N V A T L K I L Q T D L S H S G Q Y S C S A S N P L G T A S S S A R L T A R
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 0.5106 None gnomAD-4.0.0 6.85872E-07
7324 2 Y/D 2 rs765632650 0.5106 None gnomAD-2.1.1 1.45E-05
7324 2 Y/D 2 rs765632650 0.5106 None gnomAD-3.1.2 1.97E-05
7324 2 Y/D 2 rs765632650 0.5106 None gnomAD-4.0.0 2.11223E-05
7325 3 F/L 3 None 0.1890 None gnomAD-4.0.0 1.60027E-06
7325 3 F/V 3 None 0.1890 None gnomAD-4.0.0 6.8582E-07
7327 5 T/M 5 rs727504975 0.4295 None gnomAD-2.1.1 1.55155E-04
7327 5 T/M 5 rs727504975 0.4295 None gnomAD-3.1.2 6.58E-05
7327 5 T/M 5 rs727504975 0.4295 None gnomAD-4.0.0 8.75246E-05
7329 7 L/P 8 rs1347470734 0.1805 None gnomAD-2.1.1 4.07E-06
7329 7 L/P 8 rs1347470734 0.1805 None gnomAD-3.1.2 6.57E-06
7329 7 L/P 8 rs1347470734 0.1805 None gnomAD-4.0.0 6.20374E-06
7329 7 L/Q 8 rs1347470734 0.1805 None gnomAD-3.1.2 6.57E-06
7329 7 L/Q 8 rs1347470734 0.1805 None gnomAD-4.0.0 6.57212E-06
7331 9 P/H 11 rs1301921042 0.8058 None gnomAD-3.1.2 6.57E-06
7331 9 P/H 11 rs1301921042 0.8058 None gnomAD-4.0.0 6.57428E-06
7331 9 P/L 11 None 0.8058 None gnomAD-4.0.0 6.84741E-07
7331 9 P/T 11 rs2078660887 0.8058 None gnomAD-3.1.2 6.57E-06
7331 9 P/T 11 rs2078660887 0.8058 None gnomAD-4.0.0 6.57471E-06
7332 10 L/Q 13 rs369522109 0.5349 None gnomAD-2.1.1 2.43E-05
7332 10 L/Q 13 rs369522109 0.5349 None gnomAD-3.1.2 8.54E-05
7332 10 L/Q 13 rs369522109 0.5349 None gnomAD-4.0.0 1.36422E-05
7333 11 E/G 14 None 0.8091 None gnomAD-4.0.0 1.59401E-06
7333 11 E/Q 14 None 0.8091 None gnomAD-4.0.0 1.59407E-06
7334 12 A/V 16 None 0.4580 None gnomAD-4.0.0 1.20032E-06
7335 13 A/T 18 rs1208605882 0.4926 None gnomAD-2.1.1 3.19E-05
7335 13 A/T 18 rs1208605882 0.4926 None gnomAD-3.1.2 6.58E-06
7335 13 A/T 18 rs1208605882 0.4926 None gnomAD-4.0.0 4.0601E-06
7336 14 V/A 23 rs1323509026 0.5882 None gnomAD-2.1.1 3.19E-05
7338 16 D/N 25 rs773799312 0.4297 None gnomAD-2.1.1 2.43E-05
7338 16 D/N 25 rs773799312 0.4297 None gnomAD-4.0.0 1.43404E-05
7338 16 D/V 25 rs770976572 0.4297 None gnomAD-2.1.1 4.04E-06
7338 16 D/V 25 rs770976572 0.4297 None gnomAD-3.1.2 6.58E-06
7339 17 S/L 26 rs72648966 0.4446 None gnomAD-2.1.1 2.02E-05
7339 17 S/L 26 rs72648966 0.4446 None gnomAD-3.1.2 1.32E-05
7339 17 S/L 26 rs72648966 0.4446 None gnomAD-4.0.0 9.92094E-06
7340 18 V/D 28 None 0.2819 None gnomAD-4.0.0 1.20032E-06
7340 18 V/I 28 rs566468573 0.2819 None gnomAD-2.1.1 1.09162E-04
7340 18 V/I 28 rs566468573 0.2819 None gnomAD-3.1.2 1.32E-05
7340 18 V/I 28 rs566468573 0.2819 None gnomAD-4.0.0 5.27016E-05
7341 19 S/Y 29 rs1474346427 0.4682 None gnomAD-2.1.1 4.04E-06
7341 19 S/Y 29 rs1474346427 0.4682 None gnomAD-4.0.0 1.59317E-06
7342 20 L/V 30 rs1243764269 0.1932 None gnomAD-2.1.1 4.04E-06
7342 20 L/V 30 rs1243764269 0.1932 None gnomAD-4.0.0 4.77925E-06
7343 21 Q/K 31 rs886043434 0.5115 None gnomAD-4.0.0 1.59307E-06
7343 21 Q/R 31 rs1215230781 0.5115 None gnomAD-4.0.0 1.59294E-06
7345 23 Q/R 34 rs1224196588 0.2711 None gnomAD-2.1.1 4.03E-06
7345 23 Q/R 34 rs1224196588 0.2711 None gnomAD-3.1.2 6.57E-06
7345 23 Q/R 34 rs1224196588 0.2711 None gnomAD-4.0.0 3.84653E-06
7346 24 V/A 35 rs1253051189 0.1305 None gnomAD-3.1.2 1.31E-05
7346 24 V/A 35 rs1253051189 0.1305 None gnomAD-4.0.0 2.47973E-06
7347 25 A/G 38 rs1359754877 0.2077 None gnomAD-2.1.1 8.07E-06
7347 25 A/G 38 rs1359754877 0.2077 None gnomAD-4.0.0 8.21399E-06
7347 25 A/S 38 None 0.2077 None gnomAD-4.0.0 2.05346E-06
7347 25 A/T 38 rs1553911494 0.2077 None gnomAD-4.0.0 6.84487E-07
7348 26 G/E 40 None 0.3380 None gnomAD-4.0.0 6.84505E-07
7348 26 G/R 40 rs1273201877 0.3380 None gnomAD-2.1.1 4.03E-06
7350 28 P/A 42 rs2078649611 0.5044 None gnomAD-3.1.2 6.58E-06
7350 28 P/A 42 rs2078649611 0.5044 None gnomAD-4.0.0 2.5642E-06
7350 28 P/Q 42 rs1467666220 0.5044 None gnomAD-3.1.2 6.58E-06
7350 28 P/Q 42 rs1467666220 0.5044 None gnomAD-4.0.0 2.56447E-06
7353 31 T/R 45 None 0.5725 None gnomAD-4.0.0 1.59249E-06
7354 32 V/A 46 rs1191619826 0.2656 None gnomAD-3.1.2 6.58E-06
7354 32 V/A 46 rs1191619826 0.2656 None gnomAD-4.0.0 6.57531E-06
7355 33 S/P 47 None 0.2449 None gnomAD-4.0.0 1.20032E-06
7356 34 W/C 48 rs908134644 0.1479 None gnomAD-3.1.2 1.32E-05
7356 34 W/C 48 rs908134644 0.1479 None gnomAD-4.0.0 6.41037E-06
7356 34 W/L 48 None 0.1479 None gnomAD-4.0.0 1.59246E-06
7358 36 K/R 50 rs1271277715 0.2002 None gnomAD-2.1.1 4.03E-06
7358 36 K/R 50 rs1271277715 0.2002 None gnomAD-4.0.0 1.59235E-06
7360 38 D/V 52 None 1.0541 None gnomAD-4.0.0 1.36879E-06
7361 39 T/A 55 None 0.5845 None gnomAD-4.0.0 3.60098E-06
7361 39 T/N 55 rs1425492375 0.5845 None gnomAD-2.1.1 4.03E-06
7361 39 T/N 55 rs1425492375 0.5845 None gnomAD-4.0.0 4.7767E-06
7362 40 K/E 56 None 0.3739 None gnomAD-4.0.0 1.59219E-06
7364 42 R/P 59 rs200128066 0.8924 None gnomAD-4.0.0 6.8439E-07
7364 42 R/Q 59 rs200128066 0.8924 None gnomAD-2.1.1 4.65E-05
7364 42 R/Q 59 rs200128066 0.8924 None gnomAD-3.1.2 9.87E-05
7364 42 R/Q 59 rs200128066 0.8924 None gnomAD-4.0.0 8.12105E-05
7364 42 R/W 59 rs397517500 0.8924 None gnomAD-2.1.1 9.65E-05
7364 42 R/W 59 rs397517500 0.8924 None gnomAD-3.1.2 1.18418E-04
7364 42 R/W 59 rs397517500 0.8924 None gnomAD-4.0.0 6.50913E-05
7366 44 T/S 73 None 0.2257 None gnomAD-4.0.0 1.36875E-06
7368 46 E/A 115 rs1420368632 0.2760 None gnomAD-2.1.1 8.05E-06
7368 46 E/A 115 rs1420368632 0.2760 None gnomAD-3.1.2 6.58E-06
7368 46 E/A 115 rs1420368632 0.2760 None gnomAD-4.0.0 8.6782E-06
7368 46 E/Q 115 None 0.2760 None gnomAD-4.0.0 1.20032E-06
7371 49 T/A 123 rs1381030080 0.3012 None gnomAD-3.1.2 6.57E-06
7371 49 T/A 123 rs1381030080 0.3012 None gnomAD-4.0.0 1.42567E-05
7371 49 T/I 123 rs794729626 0.3012 None gnomAD-2.1.1 1.07E-05
7371 49 T/I 123 rs794729626 0.3012 None gnomAD-3.1.2 2.63E-05
7371 49 T/I 123 rs794729626 0.3012 None gnomAD-4.0.0 4.95917E-06
7371 49 T/N 123 None 0.3012 None gnomAD-4.0.0 6.84397E-07
7372 50 Y/F 125 None 0.5727 None gnomAD-4.0.0 1.20032E-06
7372 50 Y/H 125 rs1451672081 0.5727 None gnomAD-2.1.1 3.19E-05
7372 50 Y/H 125 rs1451672081 0.5727 None gnomAD-3.1.2 6.58E-06
7372 50 Y/H 125 rs1451672081 0.5727 None gnomAD-4.0.0 2.03005E-06
7373 51 F/L 127 None 0.3523 None gnomAD-4.0.0 2.40064E-06
7374 52 T/A 130 None 0.6536 None gnomAD-4.0.0 1.20032E-06
7374 52 T/I 130 rs879022559 0.6536 None gnomAD-2.1.1 7.15E-06
7374 52 T/I 130 rs879022559 0.6536 None gnomAD-3.1.2 6.58E-06
7374 52 T/I 130 rs879022559 0.6536 None gnomAD-4.0.0 2.47957E-06
7375 53 N/K 131 rs750961839 0.9411 None gnomAD-2.1.1 4.03E-06
7375 53 N/K 131 rs750961839 0.9411 None gnomAD-3.1.2 6.58E-06
7375 53 N/K 131 rs750961839 0.9411 None gnomAD-4.0.0 6.57774E-06
7376 54 N/S 134 rs765538868 0.4476 None gnomAD-2.1.1 1.21E-05
7376 54 N/S 134 rs765538868 0.4476 None gnomAD-3.1.2 6.58E-06
7376 54 N/S 134 rs765538868 0.4476 None gnomAD-4.0.0 2.56393E-06
7377 55 V/M 135 rs1490395674 0.2600 None gnomAD-2.1.1 8.06E-06
7377 55 V/M 135 rs1490395674 0.2600 None gnomAD-4.0.0 4.77704E-06
7378 56 A/T 136 rs879099986 0.0877 None gnomAD-3.1.2 6.58E-06
7378 56 A/T 136 rs879099986 0.0877 None gnomAD-4.0.0 9.91838E-06
7379 57 T/A 137 None 0.1809 None gnomAD-4.0.0 1.20032E-06
7380 58 L/F 138 rs1322468244 0.0803 None gnomAD-4.0.0 2.73776E-06
7380 58 L/I 138 rs1322468244 0.0803 None gnomAD-2.1.1 3.19E-05
7380 58 L/R 138 rs1273455014 0.0803 None gnomAD-3.1.2 6.57E-06
7380 58 L/R 138 rs1273455014 0.0803 None gnomAD-4.0.0 6.5722E-06
7381 59 V/L 139 rs762179106 0.2890 None gnomAD-2.1.1 4.03E-06
7381 59 V/L 139 rs762179106 0.2890 None gnomAD-3.1.2 6.58E-06
7381 59 V/L 139 rs762179106 0.2890 None gnomAD-4.0.0 6.57549E-06
7383 61 N/S 141 rs562295146 0.5374 None gnomAD-2.1.1 1.07E-05
7383 61 N/S 141 rs562295146 0.5374 None gnomAD-3.1.2 4.6E-05
7383 61 N/S 141 rs562295146 0.5374 None 1000 genomes 1.99681E-04
7383 61 N/S 141 rs562295146 0.5374 None gnomAD-4.0.0 1.02536E-05
7385 63 V/L 144 rs1273152724 0.1757 None gnomAD-2.1.1 4.03E-06
7385 63 V/L 144 rs1273152724 0.1757 None gnomAD-4.0.0 1.59266E-06
7386 64 N/S 145 None 0.3720 None gnomAD-4.0.0 1.20032E-06
7387 65 I/L 146 rs1322069971 0.7547 None gnomAD-2.1.1 4.03E-06
7387 65 I/L 146 rs1322069971 0.7547 None gnomAD-4.0.0 3.18529E-06
7387 65 I/S 146 rs759166844 0.7547 None gnomAD-2.1.1 1.21E-05
7387 65 I/S 146 rs759166844 0.7547 None gnomAD-4.0.0 4.77812E-06
7388 66 N/K 148 None 0.6204 None gnomAD-4.0.0 6.8448E-07
7388 66 N/S 148 rs1350328102 0.6204 None gnomAD-2.1.1 4.04E-06
7388 66 N/S 148 rs1350328102 0.6204 None gnomAD-4.0.0 1.36894E-05
7389 67 D/E 149 None 0.2349 None gnomAD-4.0.0 1.59282E-06
7391 69 G/R 152 None 0.2502 None gnomAD-4.0.0 3.42254E-06
7392 70 E/D 153 rs2078620935 0.3091 None gnomAD-4.0.0 2.05348E-06
7393 71 Y/D 154 rs1185905654 0.1485 None gnomAD-3.1.2 6.58E-06
7393 71 Y/D 154 rs1185905654 0.1485 None gnomAD-4.0.0 6.57748E-06
7394 72 T/K 155 None 0.1633 None gnomAD-4.0.0 1.20033E-06
7395 73 C/R 156 None 0.0754 None gnomAD-4.0.0 2.40064E-06
7396 74 K/E 157 None 0.2581 None gnomAD-4.0.0 3.18563E-06
7397 75 A/T 158 rs1444697526 0.0965 None gnomAD-2.1.1 4.04E-06
7397 75 A/T 158 rs1444697526 0.0965 None gnomAD-4.0.0 1.59296E-06
7400 78 S/G 162 None 0.5499 None gnomAD-4.0.0 1.59289E-06
7403 81 T/I 165 None 0.4890 None gnomAD-4.0.0 1.59318E-06
7403 81 T/N 165 rs2078617852 0.4890 None gnomAD-3.1.2 6.57E-06
7403 81 T/N 165 rs2078617852 0.4890 None gnomAD-4.0.0 6.57402E-06
7404 82 A/S 166 None 0.1728 None gnomAD-4.0.0 6.84774E-07
7404 82 A/T 166 None 0.1728 None gnomAD-4.0.0 6.84774E-07
7405 83 S/F 168 rs794729627 0.4175 None gnomAD-4.0.0 2.05445E-06
7406 84 S/F 169 rs2078615661 0.1110 None gnomAD-3.1.2 6.57E-06
7406 84 S/F 169 rs2078615661 0.1110 None gnomAD-4.0.0 6.57402E-06
7406 84 S/P 169 rs371525576 0.1110 None gnomAD-2.1.1 4.05E-06
7406 84 S/P 169 rs371525576 0.1110 None gnomAD-3.1.2 1.31E-05
7406 84 S/P 169 rs371525576 0.1110 None gnomAD-4.0.0 5.13246E-06
7407 85 K/N 171 rs548543520 0.4071 None gnomAD-2.1.1 4.05E-06
7407 85 K/N 171 rs548543520 0.4071 None gnomAD-3.1.2 6.57E-06
7407 85 K/N 171 rs548543520 0.4071 None 1000 genomes 1.99681E-04
7407 85 K/N 171 rs548543520 0.4071 None gnomAD-4.0.0 4.05938E-06
7407 85 K/R 171 None 0.4071 None gnomAD-4.0.0 1.20033E-06
7408 86 T/I 172 None 0.1939 None gnomAD-4.0.0 2.40066E-06
7410 88 F/L 174 rs747973968 0.5198 None gnomAD-2.1.1 4.08E-06
7410 88 F/L 174 rs747973968 0.5198 None gnomAD-3.1.2 1.31E-05
7410 88 F/L 174 rs747973968 0.5198 None gnomAD-4.0.0 6.86648E-07
7411 89 R/G 175 rs780911294 0.7542 None gnomAD-2.1.1 4.1E-06
7411 89 R/G 175 rs780911294 0.7542 None gnomAD-4.0.0 1.60747E-06