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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7324 2 Y/C 2 None 0.5201 None gnomAD-4.0.0 6.85872E-07
7324 2 Y/D 2 rs765632650 0.5201 None gnomAD-2.1.1 1.45E-05
7324 2 Y/D 2 rs765632650 0.5201 None gnomAD-3.1.2 1.97E-05
7324 2 Y/D 2 rs765632650 0.5201 None gnomAD-4.0.0 2.11223E-05
7325 3 F/L 3 None 0.2269 None gnomAD-4.0.0 1.60027E-06
7325 3 F/V 3 None 0.2269 None gnomAD-4.0.0 6.8582E-07
7327 5 T/M 5 rs727504975 0.4960 None gnomAD-2.1.1 1.55155E-04
7327 5 T/M 5 rs727504975 0.4960 None gnomAD-3.1.2 6.58E-05
7327 5 T/M 5 rs727504975 0.4960 None gnomAD-4.0.0 8.75246E-05
7329 7 L/P 8 rs1347470734 0.1834 None gnomAD-2.1.1 4.07E-06
7329 7 L/P 8 rs1347470734 0.1834 None gnomAD-3.1.2 6.57E-06
7329 7 L/P 8 rs1347470734 0.1834 None gnomAD-4.0.0 6.20374E-06
7329 7 L/Q 8 rs1347470734 0.1834 None gnomAD-3.1.2 6.57E-06
7329 7 L/Q 8 rs1347470734 0.1834 None gnomAD-4.0.0 6.57212E-06
7331 9 P/H 11 rs1301921042 0.6260 None gnomAD-3.1.2 6.57E-06
7331 9 P/H 11 rs1301921042 0.6260 None gnomAD-4.0.0 6.57428E-06
7331 9 P/L 11 None 0.6260 None gnomAD-4.0.0 6.84741E-07
7331 9 P/T 11 rs2078660887 0.6260 None gnomAD-3.1.2 6.57E-06
7331 9 P/T 11 rs2078660887 0.6260 None gnomAD-4.0.0 6.57471E-06
7332 10 L/Q 13 rs369522109 0.2255 None gnomAD-2.1.1 2.43E-05
7332 10 L/Q 13 rs369522109 0.2255 None gnomAD-3.1.2 8.54E-05
7332 10 L/Q 13 rs369522109 0.2255 None gnomAD-4.0.0 1.36422E-05
7333 11 E/G 14 None 0.4985 None gnomAD-4.0.0 1.59401E-06
7333 11 E/Q 14 None 0.4985 None gnomAD-4.0.0 1.59407E-06
7334 12 A/V 16 None 0.1669 None gnomAD-4.0.0 1.20032E-06
7335 13 A/T 18 rs1208605882 0.1726 None gnomAD-2.1.1 3.19E-05
7335 13 A/T 18 rs1208605882 0.1726 None gnomAD-3.1.2 6.58E-06
7335 13 A/T 18 rs1208605882 0.1726 None gnomAD-4.0.0 4.0601E-06
7336 14 V/A 23 rs1323509026 0.3859 None gnomAD-2.1.1 3.19E-05
7338 16 D/N 25 rs773799312 0.3657 None gnomAD-2.1.1 2.43E-05
7338 16 D/N 25 rs773799312 0.3657 None gnomAD-4.0.0 1.43404E-05
7338 16 D/V 25 rs770976572 0.3657 None gnomAD-2.1.1 4.04E-06
7338 16 D/V 25 rs770976572 0.3657 None gnomAD-3.1.2 6.58E-06
7339 17 S/L 26 rs72648966 0.4755 None gnomAD-2.1.1 2.02E-05
7339 17 S/L 26 rs72648966 0.4755 None gnomAD-3.1.2 1.32E-05
7339 17 S/L 26 rs72648966 0.4755 None gnomAD-4.0.0 9.92094E-06
7340 18 V/D 28 None 0.1962 None gnomAD-4.0.0 1.20032E-06
7340 18 V/I 28 rs566468573 0.1962 None gnomAD-2.1.1 1.09162E-04
7340 18 V/I 28 rs566468573 0.1962 None gnomAD-3.1.2 1.32E-05
7340 18 V/I 28 rs566468573 0.1962 None gnomAD-4.0.0 5.27016E-05
7341 19 S/Y 29 rs1474346427 0.3517 None gnomAD-2.1.1 4.04E-06
7341 19 S/Y 29 rs1474346427 0.3517 None gnomAD-4.0.0 1.59317E-06
7342 20 L/V 30 rs1243764269 0.1419 None gnomAD-2.1.1 4.04E-06
7342 20 L/V 30 rs1243764269 0.1419 None gnomAD-4.0.0 4.77925E-06
7343 21 Q/K 31 rs886043434 0.6430 None gnomAD-4.0.0 1.59307E-06
7343 21 Q/R 31 rs1215230781 0.6430 None gnomAD-4.0.0 1.59294E-06
7345 23 Q/R 34 rs1224196588 0.1582 None gnomAD-2.1.1 4.03E-06
7345 23 Q/R 34 rs1224196588 0.1582 None gnomAD-3.1.2 6.57E-06
7345 23 Q/R 34 rs1224196588 0.1582 None gnomAD-4.0.0 3.84653E-06
7346 24 V/A 35 rs1253051189 0.1084 None gnomAD-3.1.2 1.31E-05
7346 24 V/A 35 rs1253051189 0.1084 None gnomAD-4.0.0 2.47973E-06
7347 25 A/G 38 rs1359754877 0.1959 None gnomAD-2.1.1 8.07E-06
7347 25 A/G 38 rs1359754877 0.1959 None gnomAD-4.0.0 8.21399E-06
7347 25 A/S 38 None 0.1959 None gnomAD-4.0.0 2.05346E-06
7347 25 A/T 38 rs1553911494 0.1959 None gnomAD-4.0.0 6.84487E-07
7348 26 G/E 40 None 0.3736 None gnomAD-4.0.0 6.84505E-07
7348 26 G/R 40 rs1273201877 0.3736 None gnomAD-2.1.1 4.03E-06
7350 28 P/A 42 rs2078649611 0.5333 None gnomAD-3.1.2 6.58E-06
7350 28 P/A 42 rs2078649611 0.5333 None gnomAD-4.0.0 2.5642E-06
7350 28 P/Q 42 rs1467666220 0.5333 None gnomAD-3.1.2 6.58E-06
7350 28 P/Q 42 rs1467666220 0.5333 None gnomAD-4.0.0 2.56447E-06
7353 31 T/R 45 None 0.5302 None gnomAD-4.0.0 1.59249E-06
7354 32 V/A 46 rs1191619826 0.2556 None gnomAD-3.1.2 6.58E-06
7354 32 V/A 46 rs1191619826 0.2556 None gnomAD-4.0.0 6.57531E-06
7355 33 S/P 47 None 0.2403 None gnomAD-4.0.0 1.20032E-06
7356 34 W/C 48 rs908134644 0.1448 None gnomAD-3.1.2 1.32E-05
7356 34 W/C 48 rs908134644 0.1448 None gnomAD-4.0.0 6.41037E-06
7356 34 W/L 48 None 0.1448 None gnomAD-4.0.0 1.59246E-06
7358 36 K/R 50 rs1271277715 0.1713 None gnomAD-2.1.1 4.03E-06
7358 36 K/R 50 rs1271277715 0.1713 None gnomAD-4.0.0 1.59235E-06
7360 38 D/V 52 None 1.0816 None gnomAD-4.0.0 1.36879E-06
7361 39 T/A 55 None 0.6057 None gnomAD-4.0.0 3.60098E-06
7361 39 T/N 55 rs1425492375 0.6057 None gnomAD-2.1.1 4.03E-06
7361 39 T/N 55 rs1425492375 0.6057 None gnomAD-4.0.0 4.7767E-06
7362 40 K/E 56 None 0.3651 None gnomAD-4.0.0 1.59219E-06
7364 42 R/P 59 rs200128066 0.8996 None gnomAD-4.0.0 6.8439E-07
7364 42 R/Q 59 rs200128066 0.8996 None gnomAD-2.1.1 4.65E-05
7364 42 R/Q 59 rs200128066 0.8996 None gnomAD-3.1.2 9.87E-05
7364 42 R/Q 59 rs200128066 0.8996 None gnomAD-4.0.0 8.12105E-05
7364 42 R/W 59 rs397517500 0.8996 None gnomAD-2.1.1 9.65E-05
7364 42 R/W 59 rs397517500 0.8996 None gnomAD-3.1.2 1.18418E-04
7364 42 R/W 59 rs397517500 0.8996 None gnomAD-4.0.0 6.50913E-05
7366 44 T/S 73 None 0.2392 None gnomAD-4.0.0 1.36875E-06
7368 46 E/A 115 rs1420368632 0.2650 None gnomAD-2.1.1 8.05E-06
7368 46 E/A 115 rs1420368632 0.2650 None gnomAD-3.1.2 6.58E-06
7368 46 E/A 115 rs1420368632 0.2650 None gnomAD-4.0.0 8.6782E-06
7368 46 E/Q 115 None 0.2650 None gnomAD-4.0.0 1.20032E-06
7371 49 T/A 123 rs1381030080 0.3238 None gnomAD-3.1.2 6.57E-06
7371 49 T/A 123 rs1381030080 0.3238 None gnomAD-4.0.0 1.42567E-05
7371 49 T/I 123 rs794729626 0.3238 None gnomAD-2.1.1 1.07E-05
7371 49 T/I 123 rs794729626 0.3238 None gnomAD-3.1.2 2.63E-05
7371 49 T/I 123 rs794729626 0.3238 None gnomAD-4.0.0 4.95917E-06
7371 49 T/N 123 None 0.3238 None gnomAD-4.0.0 6.84397E-07
7372 50 Y/F 125 None 0.4762 None gnomAD-4.0.0 1.20032E-06
7372 50 Y/H 125 rs1451672081 0.4762 None gnomAD-2.1.1 3.19E-05
7372 50 Y/H 125 rs1451672081 0.4762 None gnomAD-3.1.2 6.58E-06
7372 50 Y/H 125 rs1451672081 0.4762 None gnomAD-4.0.0 2.03005E-06
7373 51 F/L 127 None 0.2993 None gnomAD-4.0.0 2.40064E-06
7374 52 T/A 130 None 0.5362 None gnomAD-4.0.0 1.20032E-06
7374 52 T/I 130 rs879022559 0.5362 None gnomAD-2.1.1 7.15E-06
7374 52 T/I 130 rs879022559 0.5362 None gnomAD-3.1.2 6.58E-06
7374 52 T/I 130 rs879022559 0.5362 None gnomAD-4.0.0 2.47957E-06
7375 53 N/K 131 rs750961839 0.9087 None gnomAD-2.1.1 4.03E-06
7375 53 N/K 131 rs750961839 0.9087 None gnomAD-3.1.2 6.58E-06
7375 53 N/K 131 rs750961839 0.9087 None gnomAD-4.0.0 6.57774E-06
7376 54 N/S 134 rs765538868 0.3347 None gnomAD-2.1.1 1.21E-05
7376 54 N/S 134 rs765538868 0.3347 None gnomAD-3.1.2 6.58E-06
7376 54 N/S 134 rs765538868 0.3347 None gnomAD-4.0.0 2.56393E-06
7377 55 V/M 135 rs1490395674 0.2441 None gnomAD-2.1.1 8.06E-06
7377 55 V/M 135 rs1490395674 0.2441 None gnomAD-4.0.0 4.77704E-06
7378 56 A/T 136 rs879099986 0.0888 None gnomAD-3.1.2 6.58E-06
7378 56 A/T 136 rs879099986 0.0888 None gnomAD-4.0.0 9.91838E-06
7379 57 T/A 137 None 0.1836 None gnomAD-4.0.0 1.20032E-06
7380 58 L/F 138 rs1322468244 0.0841 None gnomAD-4.0.0 2.73776E-06
7380 58 L/I 138 rs1322468244 0.0841 None gnomAD-2.1.1 3.19E-05
7380 58 L/R 138 rs1273455014 0.0841 None gnomAD-3.1.2 6.57E-06
7380 58 L/R 138 rs1273455014 0.0841 None gnomAD-4.0.0 6.5722E-06
7381 59 V/L 139 rs762179106 0.1826 None gnomAD-2.1.1 4.03E-06
7381 59 V/L 139 rs762179106 0.1826 None gnomAD-3.1.2 6.58E-06
7381 59 V/L 139 rs762179106 0.1826 None gnomAD-4.0.0 6.57549E-06
7383 61 N/S 141 rs562295146 0.3356 None gnomAD-2.1.1 1.07E-05
7383 61 N/S 141 rs562295146 0.3356 None gnomAD-3.1.2 4.6E-05
7383 61 N/S 141 rs562295146 0.3356 None 1000 genomes 1.99681E-04
7383 61 N/S 141 rs562295146 0.3356 None gnomAD-4.0.0 1.02536E-05
7385 63 V/L 144 rs1273152724 0.0599 None gnomAD-2.1.1 4.03E-06
7385 63 V/L 144 rs1273152724 0.0599 None gnomAD-4.0.0 1.59266E-06
7386 64 N/S 145 None 0.4907 None gnomAD-4.0.0 1.20032E-06
7387 65 I/L 146 rs1322069971 0.5435 None gnomAD-2.1.1 4.03E-06
7387 65 I/L 146 rs1322069971 0.5435 None gnomAD-4.0.0 3.18529E-06
7387 65 I/S 146 rs759166844 0.5435 None gnomAD-2.1.1 1.21E-05
7387 65 I/S 146 rs759166844 0.5435 None gnomAD-4.0.0 4.77812E-06
7388 66 N/K 148 None 0.6696 None gnomAD-4.0.0 6.8448E-07
7388 66 N/S 148 rs1350328102 0.6696 None gnomAD-2.1.1 4.04E-06
7388 66 N/S 148 rs1350328102 0.6696 None gnomAD-4.0.0 1.36894E-05
7389 67 D/E 149 None 0.1240 None gnomAD-4.0.0 1.59282E-06
7391 69 G/R 152 None 0.2643 None gnomAD-4.0.0 3.42254E-06
7392 70 E/D 153 rs2078620935 0.4237 None gnomAD-4.0.0 2.05348E-06
7393 71 Y/D 154 rs1185905654 0.1144 None gnomAD-3.1.2 6.58E-06
7393 71 Y/D 154 rs1185905654 0.1144 None gnomAD-4.0.0 6.57748E-06
7394 72 T/K 155 None 0.1693 None gnomAD-4.0.0 1.20033E-06
7395 73 C/R 156 None 0.0883 None gnomAD-4.0.0 2.40064E-06
7396 74 K/E 157 None 0.2664 None gnomAD-4.0.0 3.18563E-06
7397 75 A/T 158 rs1444697526 0.1002 None gnomAD-2.1.1 4.04E-06
7397 75 A/T 158 rs1444697526 0.1002 None gnomAD-4.0.0 1.59296E-06
7400 78 S/G 162 None 0.5960 None gnomAD-4.0.0 1.59289E-06
7403 81 T/I 165 None 0.5591 None gnomAD-4.0.0 1.59318E-06
7403 81 T/N 165 rs2078617852 0.5591 None gnomAD-3.1.2 6.57E-06
7403 81 T/N 165 rs2078617852 0.5591 None gnomAD-4.0.0 6.57402E-06
7404 82 A/S 166 None 0.2246 None gnomAD-4.0.0 6.84774E-07
7404 82 A/T 166 None 0.2246 None gnomAD-4.0.0 6.84774E-07
7405 83 S/F 168 rs794729627 0.3773 None gnomAD-4.0.0 2.05445E-06
7406 84 S/F 169 rs2078615661 0.1666 None gnomAD-3.1.2 6.57E-06
7406 84 S/F 169 rs2078615661 0.1666 None gnomAD-4.0.0 6.57402E-06
7406 84 S/P 169 rs371525576 0.1666 None gnomAD-2.1.1 4.05E-06
7406 84 S/P 169 rs371525576 0.1666 None gnomAD-3.1.2 1.31E-05
7406 84 S/P 169 rs371525576 0.1666 None gnomAD-4.0.0 5.13246E-06
7407 85 K/N 171 rs548543520 0.4064 None gnomAD-2.1.1 4.05E-06
7407 85 K/N 171 rs548543520 0.4064 None gnomAD-3.1.2 6.57E-06
7407 85 K/N 171 rs548543520 0.4064 None 1000 genomes 1.99681E-04
7407 85 K/N 171 rs548543520 0.4064 None gnomAD-4.0.0 4.05938E-06
7407 85 K/R 171 None 0.4064 None gnomAD-4.0.0 1.20033E-06
7408 86 T/I 172 None 0.1384 None gnomAD-4.0.0 2.40066E-06
7410 88 F/L 174 rs747973968 0.1276 None gnomAD-2.1.1 4.08E-06
7410 88 F/L 174 rs747973968 0.1276 None gnomAD-3.1.2 1.31E-05
7410 88 F/L 174 rs747973968 0.1276 None gnomAD-4.0.0 6.86648E-07
7411 89 R/G 175 rs780911294 0.4838 None gnomAD-2.1.1 4.1E-06
7411 89 R/G 175 rs780911294 0.4838 None gnomAD-4.0.0 1.60747E-06