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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30325 2 P/A 2 None 0.1590 None gnomAD-4.0.0 3.42126E-06
30325 2 P/S 2 None 0.1590 None gnomAD-4.0.0 6.84252E-07
30326 3 G/V 3 rs1193099278 0.2608 None gnomAD-2.1.1 4.02E-06
30327 4 P/L 4 rs770107107 0.4559 None gnomAD-2.1.1 4.02E-06
30327 4 P/L 4 rs770107107 0.4559 None gnomAD-4.0.0 3.18298E-06
30327 4 P/R 4 rs770107107 0.4559 None gnomAD-2.1.1 1.21E-05
30327 4 P/R 4 rs770107107 0.4559 None gnomAD-4.0.0 3.18298E-06
30327 4 P/S 4 None 0.4559 None gnomAD-4.0.0 6.84244E-07
30328 5 P/L 5 rs1441747901 0.1334 None gnomAD-2.1.1 6.37E-05
30328 5 P/L 5 rs1441747901 0.1334 None gnomAD-3.1.2 1.31E-05
30328 5 P/L 5 rs1441747901 0.1334 None gnomAD-4.0.0 1.85922E-06
30328 5 P/Q 5 None 0.1334 None gnomAD-4.0.0 6.84244E-07
30328 5 P/S 5 rs748271383 0.1334 None gnomAD-2.1.1 4.02E-06
30328 5 P/S 5 rs748271383 0.1334 None gnomAD-4.0.0 1.59142E-06
30329 6 G/R 6 rs1178018014 0.2287 None gnomAD-2.1.1 4.02E-06
30329 6 G/R 6 rs1178018014 0.2287 None gnomAD-4.0.0 3.60097E-06
30331 8 P/A 9 None 0.1521 None gnomAD-4.0.0 6.84239E-07
30331 8 P/S 9 rs75022916 0.1521 None gnomAD-2.1.1 6.43E-05
30331 8 P/S 9 rs75022916 0.1521 None gnomAD-3.1.2 2.62988E-04
30331 8 P/S 9 rs75022916 0.1521 None 1000 genomes 1.99681E-04
30331 8 P/S 9 rs75022916 0.1521 None gnomAD-4.0.0 4.33787E-05
30332 9 V/I 11 None 0.5600 None gnomAD-4.0.0 1.36843E-06
30333 10 I/M 12 None 0.2196 None gnomAD-4.0.0 1.20032E-06
30333 10 I/T 12 rs755369653 0.2196 None gnomAD-3.1.2 6.57E-06
30333 10 I/T 12 rs755369653 0.2196 None gnomAD-4.0.0 1.6112E-05
30333 10 I/V 12 None 0.2196 None gnomAD-4.0.0 3.18249E-06
30334 11 Y/C 13 None 0.2638 None gnomAD-4.0.0 1.59118E-06
30334 11 Y/D 13 None 0.2638 None gnomAD-4.0.0 1.36839E-06
30334 11 Y/H 13 None 0.2638 None gnomAD-4.0.0 6.84195E-07
30335 12 N/D 14 rs1199061926 0.5654 None gnomAD-2.1.1 8.04E-06
30335 12 N/D 14 rs1199061926 0.5654 None gnomAD-4.0.0 1.20032E-06
30335 12 N/S 14 rs768793048 0.5654 None gnomAD-2.1.1 1.61E-05
30335 12 N/S 14 rs768793048 0.5654 None gnomAD-4.0.0 6.84184E-06
30336 13 V/A 15 None 0.2585 None gnomAD-4.0.0 1.20032E-06
30339 16 D/E 18 rs966591183 0.5527 None gnomAD-2.1.1 4.02E-06
30339 16 D/E 18 rs966591183 0.5527 None gnomAD-3.1.2 6.57E-06
30339 16 D/E 18 rs966591183 0.5527 None gnomAD-4.0.0 1.23931E-06
30339 16 D/N 18 None 0.5527 None gnomAD-4.0.0 6.84184E-07
30340 17 G/C 19 rs758970884 0.0987 None gnomAD-2.1.1 4.02E-06
30341 18 M/I 20 rs1559200565 0.0825 None gnomAD-4.0.0 1.59113E-06
30341 18 M/K 20 rs1379791737 0.0825 None gnomAD-2.1.1 1.43E-05
30341 18 M/K 20 rs1379791737 0.0825 None gnomAD-3.1.2 6.57E-06
30341 18 M/K 20 rs1379791737 0.0825 None gnomAD-4.0.0 3.09829E-06
30341 18 M/T 20 rs1379791737 0.0825 None gnomAD-4.0.0 2.73673E-06
30341 18 M/V 20 None 0.0825 None gnomAD-4.0.0 1.20033E-06
30345 22 W/C 24 None 0.1140 None gnomAD-4.0.0 1.20033E-06
30345 22 W/R 24 None 0.1140 None gnomAD-4.0.0 1.59108E-06
30346 23 D/E 25 rs917850028 0.7977 None gnomAD-2.1.1 3.18E-05
30346 23 D/E 25 rs917850028 0.7977 None gnomAD-3.1.2 6.57E-06
30346 23 D/E 25 rs917850028 0.7977 None gnomAD-4.0.0 3.09829E-06
30346 23 D/Y 25 rs572533691 0.7977 None gnomAD-3.1.2 6.57E-06
30346 23 D/Y 25 rs572533691 0.7977 None 1000 genomes 1.99681E-04
30346 23 D/Y 25 rs572533691 0.7977 None gnomAD-4.0.0 6.5672E-06
30347 24 A/T 26 None 0.3871 None gnomAD-4.0.0 1.20034E-06
30348 25 P/L 27 rs1465887824 0.2216 None gnomAD-2.1.1 4.02E-06
30348 25 P/L 27 rs1465887824 0.2216 None gnomAD-4.0.0 3.18218E-06
30348 25 P/S 27 rs746285549 0.2216 None gnomAD-2.1.1 4.02E-06
30348 25 P/S 27 rs746285549 0.2216 None gnomAD-4.0.0 6.84183E-07
30348 25 P/T 27 None 0.2216 None gnomAD-4.0.0 2.05255E-06
30351 28 D/H 30 rs1357760095 0.3554 None gnomAD-2.1.1 4.02E-06
30351 28 D/H 30 rs1357760095 0.3554 None gnomAD-4.0.0 1.59108E-06
30351 28 D/V 30 None 0.3554 None gnomAD-4.0.0 1.59109E-06
30352 29 G/D 31 rs1415254742 0.2639 None gnomAD-2.1.1 4.02E-06
30352 29 G/D 31 rs1415254742 0.2639 None gnomAD-4.0.0 2.05253E-06
30353 30 G/C 32 None 0.6404 None gnomAD-4.0.0 1.5911E-06
30353 30 G/D 32 rs1244673503 0.6404 None gnomAD-3.1.2 6.57E-06
30353 30 G/D 32 rs1244673503 0.6404 None gnomAD-4.0.0 3.84302E-06
30353 30 G/R 32 rs779096830 0.6404 None gnomAD-2.1.1 4.02E-06
30353 30 G/R 32 rs779096830 0.6404 None gnomAD-4.0.0 1.5911E-06
30356 33 V/A 35 rs780689608 0.2494 None gnomAD-2.1.1 4.02E-06
30356 33 V/A 35 rs780689608 0.2494 None gnomAD-4.0.0 1.59111E-06
30356 33 V/I 35 rs752225531 0.2494 None gnomAD-2.1.1 4.02E-06
30356 33 V/I 35 rs752225531 0.2494 None gnomAD-4.0.0 1.59111E-06
30357 34 T/I 36 rs754537852 0.4438 None gnomAD-2.1.1 1.21E-05
30357 34 T/I 36 rs754537852 0.4438 None gnomAD-4.0.0 2.05254E-06
30358 35 G/E 37 rs72648243 0.1162 None gnomAD-2.1.1 1.21E-05
30358 35 G/E 37 rs72648243 0.1162 None gnomAD-3.1.2 6.57E-06
30358 35 G/E 37 rs72648243 0.1162 None gnomAD-4.0.0 8.05581E-06
30359 36 F/L 38 rs1312420792 0.1065 None gnomAD-2.1.1 4.02E-06
30359 36 F/L 38 rs1312420792 0.1065 None gnomAD-4.0.0 1.59111E-06
30360 37 H/R 39 None 0.2031 None gnomAD-4.0.0 1.59114E-06
30360 37 H/Y 39 rs1033418419 0.2031 None gnomAD-4.0.0 2.40065E-06
30361 38 V/A 40 rs1237357912 0.0941 None gnomAD-2.1.1 1.21E-05
30361 38 V/A 40 rs1237357912 0.0941 None gnomAD-4.0.0 3.18228E-06
30362 39 E/K 41 rs764904720 0.1247 None gnomAD-2.1.1 4.03E-06
30362 39 E/K 41 rs764904720 0.1247 None gnomAD-4.0.0 2.05257E-06
30362 39 E/Q 41 rs764904720 0.1247 None gnomAD-2.1.1 1.43E-05
30362 39 E/Q 41 rs764904720 0.1247 None gnomAD-3.1.2 6.57E-06
30362 39 E/Q 41 rs764904720 0.1247 None gnomAD-4.0.0 1.05349E-05
30363 40 K/N 42 rs762103106 0.2291 None gnomAD-3.1.2 6.57E-06
30363 40 K/N 42 rs762103106 0.2291 None gnomAD-4.0.0 6.5741E-06
30364 41 K/N 43 rs1395941923 0.1276 None gnomAD-2.1.1 4.03E-06
30364 41 K/N 43 rs1395941923 0.1276 None gnomAD-4.0.0 4.10514E-06
30366 43 R/G 50 None 0.3046 None gnomAD-4.0.0 1.59113E-06
30366 43 R/I 50 None 0.3046 None gnomAD-4.0.0 1.59139E-06
30368 45 S/R 60 rs1377525148 0.2309 None gnomAD-2.1.1 4.03E-06
30368 45 S/R 60 rs1377525148 0.2309 None gnomAD-4.0.0 1.59119E-06
30369 46 I/L 63 rs768987204 0.9653 None gnomAD-2.1.1 1.61E-05
30369 46 I/L 63 rs768987204 0.9653 None gnomAD-4.0.0 7.95565E-06
30369 46 I/M 63 None 0.9653 None gnomAD-4.0.0 2.05258E-06
30369 46 I/V 63 rs768987204 0.9653 None gnomAD-4.0.0 1.59113E-06
30370 47 L/F 64 rs876658092 0.8150 None gnomAD-2.1.1 7.15E-06
30370 47 L/F 64 rs876658092 0.8150 None gnomAD-3.1.2 6.58E-06
30370 47 L/F 64 rs876658092 0.8150 None gnomAD-4.0.0 6.40576E-06
30371 48 W/R 65 None 0.2704 None gnomAD-4.0.0 1.20032E-06
30373 50 K/Q 67 None 0.3602 None gnomAD-4.0.0 1.59121E-06
30374 51 V/I 68 None 0.2102 None gnomAD-4.0.0 1.20032E-06
30375 52 N/I 69 rs775683499 0.1261 None gnomAD-2.1.1 4.03E-06
30375 52 N/I 69 rs775683499 0.1261 None gnomAD-4.0.0 1.59115E-06
30375 52 N/K 69 None 0.1261 None gnomAD-4.0.0 6.84192E-07
30376 53 T/I 70 rs1380978634 0.9979 None gnomAD-2.1.1 4.03E-06
30376 53 T/I 70 rs1380978634 0.9979 None gnomAD-4.0.0 6.36476E-06
30376 53 T/R 70 rs1380978634 0.9979 None gnomAD-3.1.2 6.57E-06
30376 53 T/R 70 rs1380978634 0.9979 None gnomAD-4.0.0 6.57246E-06
30377 54 S/L 72 None 0.5772 None gnomAD-4.0.0 6.84194E-07
30379 56 I/V 77 rs746319162 0.0921 None gnomAD-2.1.1 4.03E-06
30379 56 I/V 77 rs746319162 0.0921 None gnomAD-4.0.0 4.7735E-06
30381 58 G/A 88 rs1411459280 0.3090 None gnomAD-2.1.1 4.03E-06
30381 58 G/A 88 rs1411459280 0.3090 None gnomAD-4.0.0 6.36462E-06
30381 58 G/E 88 None 0.3090 None gnomAD-4.0.0 1.59116E-06
30381 58 G/R 88 rs779339354 0.3090 None gnomAD-2.1.1 4.03E-06
30381 58 G/R 88 rs779339354 0.3090 None gnomAD-4.0.0 1.59116E-06
30382 59 R/G 89 None 0.5526 None gnomAD-4.0.0 2.40085E-06
30382 59 R/I 89 rs1699529751 0.5526 None gnomAD-3.1.2 6.57E-06
30382 59 R/I 89 rs1699529751 0.5526 None gnomAD-4.0.0 2.02989E-06
30382 59 R/S 89 rs771142882 0.5526 None gnomAD-2.1.1 4.02E-06
30382 59 R/S 89 rs771142882 0.5526 None gnomAD-4.0.0 1.59121E-06
30383 60 E/Q 90 rs749647536 0.4956 None gnomAD-2.1.1 4.02E-06
30383 60 E/Q 90 rs749647536 0.4956 None gnomAD-4.0.0 1.3684E-06
30385 62 R/T 92 rs780885701 0.4389 None gnomAD-2.1.1 8.05E-06
30385 62 R/T 92 rs780885701 0.4389 None gnomAD-4.0.0 3.18249E-06
30386 63 A/G 93 None 0.1078 None gnomAD-4.0.0 1.59127E-06
30386 63 A/T 93 None 0.1078 None gnomAD-4.0.0 2.40066E-06
30387 64 T/I 94 rs754591100 0.6120 None gnomAD-2.1.1 8.05E-06
30387 64 T/I 94 rs754591100 0.6120 None gnomAD-4.0.0 4.77377E-06
30390 67 V/E 98 rs779492740 0.5069 None gnomAD-2.1.1 4.02E-06
30390 67 V/E 98 rs779492740 0.5069 None gnomAD-4.0.0 1.5913E-06
30390 67 V/I 98 None 0.5069 None gnomAD-4.0.0 1.20033E-06
30391 68 E/D 99 rs199505541 0.6350 None gnomAD-2.1.1 3.4656E-04
30391 68 E/D 99 rs199505541 0.6350 None gnomAD-3.1.2 2.29933E-04
30391 68 E/D 99 rs199505541 0.6350 None gnomAD-4.0.0 2.13793E-04
30391 68 E/Q 99 rs758395481 0.6350 None gnomAD-2.1.1 8.05E-06
30391 68 E/Q 99 rs758395481 0.6350 None gnomAD-3.1.2 6.57E-06
30391 68 E/Q 99 rs758395481 0.6350 None gnomAD-4.0.0 1.85907E-06
30393 70 L/P 102 None 0.3255 None gnomAD-4.0.0 1.20032E-06
30394 71 D/E 103 None 0.2070 None gnomAD-4.0.0 1.20032E-06
30397 74 F/C 106 None 0.1200 None gnomAD-3.1.2 6.57E-06
30397 74 F/C 106 None 0.1200 None gnomAD-4.0.0 6.57022E-06
30397 74 F/L 106 None 0.1200 None gnomAD-4.0.0 6.8432E-07
30397 74 F/V 106 rs1699512079 0.1200 None gnomAD-4.0.0 1.36864E-06
30398 75 R/C 107 rs765097933 0.1349 None gnomAD-2.1.1 2.14E-05
30398 75 R/C 107 rs765097933 0.1349 None gnomAD-3.1.2 1.97E-05
30398 75 R/C 107 rs765097933 0.1349 None gnomAD-4.0.0 9.29732E-06
30398 75 R/H 107 rs761570672 0.1349 None gnomAD-2.1.1 1.79E-05
30398 75 R/H 107 rs761570672 0.1349 None gnomAD-3.1.2 1.97E-05
30398 75 R/H 107 rs761570672 0.1349 None gnomAD-4.0.0 1.23963E-05
30398 75 R/S 107 None 0.1349 None gnomAD-4.0.0 6.84361E-07
30399 76 V/A 108 rs368264432 0.0720 None gnomAD-4.0.0 2.40064E-06
30400 77 Y/C 109 rs376494747 0.1894 None gnomAD-2.1.1 8.05E-06
30400 77 Y/C 109 rs376494747 0.1894 None gnomAD-4.0.0 1.36887E-06
30400 77 Y/F 109 rs376494747 0.1894 None gnomAD-2.1.1 7.25E-05
30400 77 Y/F 109 rs376494747 0.1894 None gnomAD-3.1.2 1.31E-05
30400 77 Y/F 109 rs376494747 0.1894 None gnomAD-4.0.0 4.52495E-05
30400 77 Y/H 109 rs753682966 0.1894 None gnomAD-4.0.0 6.84418E-07
30400 77 Y/N 109 rs753682966 0.1894 None gnomAD-2.1.1 8.05E-06
30400 77 Y/N 109 rs753682966 0.1894 None gnomAD-4.0.0 2.05325E-06
30401 78 A/T 110 rs775741044 0.0928 None gnomAD-3.1.2 4.6E-05
30401 78 A/T 110 rs775741044 0.0928 None gnomAD-4.0.0 5.57935E-06
30401 78 A/V 110 None 0.0928 None gnomAD-4.0.0 2.40064E-06
30402 79 E/K 111 None 0.2801 None gnomAD-4.0.0 1.59549E-06
30403 80 N/K 112 rs760102226 0.1135 None gnomAD-2.1.1 4.03E-06
30403 80 N/K 112 rs760102226 0.1135 None gnomAD-4.0.0 1.59536E-06
30404 81 S/F 113 None 0.7232 None gnomAD-4.0.0 1.59575E-06
30405 82 A/P 114 rs774774999 0.4889 None gnomAD-2.1.1 4.03E-06
30405 82 A/P 114 rs774774999 0.4889 None gnomAD-3.1.2 6.57E-06
30405 82 A/P 114 rs774774999 0.4889 None gnomAD-4.0.0 6.57177E-06
30405 82 A/V 114 rs771462119 0.4889 None gnomAD-2.1.1 4.03E-06
30405 82 A/V 114 rs771462119 0.4889 None gnomAD-3.1.2 6.57E-06
30407 84 L/P 117 rs778086508 0.5309 None gnomAD-2.1.1 8.07E-06
30407 84 L/P 117 rs778086508 0.5309 None gnomAD-3.1.2 6.57E-06
30407 84 L/P 117 rs778086508 0.5309 None gnomAD-4.0.0 1.02815E-05
30408 85 S/G 118 None 0.1298 None gnomAD-4.0.0 1.20032E-06
30408 85 S/R 118 None 0.1298 None gnomAD-4.0.0 1.20032E-06
30410 87 P/L 120 None 0.3018 None gnomAD-4.0.0 1.61041E-06
30411 88 S/N 121 None 0.1189 None gnomAD-4.0.0 3.22706E-06
30411 88 S/T 121 rs1482766164 0.1189 None gnomAD-3.1.2 6.57E-06
30411 88 S/T 121 rs1482766164 0.1189 None gnomAD-4.0.0 6.57436E-06
30412 89 D/G 122 None 0.7209 None gnomAD-4.0.0 1.6231E-06
30412 89 D/N 122 None 0.7209 None gnomAD-4.0.0 2.40064E-06
30413 90 P/S 123 None 0.3114 None gnomAD-4.0.0 1.20033E-06
30414 91 S/N 124 rs1699490262 0.1332 None gnomAD-3.1.2 6.58E-06
30414 91 S/N 124 rs1699490262 0.1332 None gnomAD-4.0.0 3.94937E-06
30414 91 S/T 124 None 0.1332 None gnomAD-4.0.0 1.64589E-06
30415 92 K/N 125 None 0.9296 None gnomAD-4.0.0 1.39005E-06
30419 96 A/P 130 None 0.0732 None gnomAD-4.0.0 6.97832E-07
30419 96 A/T 130 None 0.0732 None gnomAD-4.0.0 2.79133E-06
30419 96 A/V 130 None 0.0732 None gnomAD-4.0.0 1.20043E-06
30420 97 V/A 131 rs779547880 0.3451 None gnomAD-2.1.1 4.41E-06
30420 97 V/A 131 rs779547880 0.3451 None gnomAD-4.0.0 1.68418E-06
30420 97 V/D 131 rs779547880 0.3451 None gnomAD-2.1.1 4.41E-06
30420 97 V/D 131 rs779547880 0.3451 None gnomAD-4.0.0 1.68418E-06
30420 97 V/F 131 None 0.3451 None gnomAD-4.0.0 2.40095E-06
30421 98 S/A 132 None 0.4403 None gnomAD-4.0.0 1.68656E-06
30421 98 S/P 132 rs1699486002 0.4403 None gnomAD-3.1.2 6.57E-06
30421 98 S/P 132 rs1699486002 0.4403 None gnomAD-4.0.0 6.57065E-06