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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17370 2 P/A 2 None 0.1227 None gnomAD-4.0.0 6.86945E-07
17370 2 P/L 2 rs773071032 0.1227 None gnomAD-2.1.1 1.82E-05
17370 2 P/L 2 rs773071032 0.1227 None gnomAD-3.1.2 6.58E-06
17370 2 P/L 2 rs773071032 0.1227 None gnomAD-4.0.0 1.05754E-05
17371 3 G/E 3 rs794729455 0.2208 None gnomAD-4.0.0 1.37356E-05
17371 3 G/V 3 None 0.2208 None gnomAD-4.0.0 2.74713E-06
17372 4 P/R 4 None 0.3825 None gnomAD-4.0.0 2.05925E-06
17372 4 P/S 4 rs2055579042 0.3825 None gnomAD-3.1.2 6.58E-06
17372 4 P/S 4 rs2055579042 0.3825 None gnomAD-4.0.0 6.58215E-06
17372 4 P/T 4 None 0.3825 None gnomAD-4.0.0 1.37295E-06
17375 7 N/Y 7 rs1196364304 0.5421 None gnomAD-2.1.1 4.06E-06
17375 7 N/Y 7 rs1196364304 0.5421 None gnomAD-4.0.0 3.19963E-06
17376 8 F/L 9 rs761660658 0.1803 None gnomAD-2.1.1 3.19E-05
17376 8 F/L 9 rs761660658 0.1803 None gnomAD-3.1.2 1.32E-05
17376 8 F/L 9 rs761660658 0.1803 None gnomAD-4.0.0 5.14467E-06
17378 10 F/L 12 rs776588807 0.2675 None gnomAD-2.1.1 4.05E-06
17378 10 F/L 12 rs776588807 0.2675 None gnomAD-4.0.0 6.85454E-07
17378 10 F/V 12 None 0.2675 None gnomAD-4.0.0 6.85454E-07
17378 10 F/Y 12 rs2055574620 0.2675 None gnomAD-3.1.2 6.58E-06
17378 10 F/Y 12 rs2055574620 0.2675 None gnomAD-4.0.0 2.03025E-06
17379 11 E/G 13 rs1323809346 0.4572 None gnomAD-2.1.1 1.21E-05
17379 11 E/G 13 rs1323809346 0.4572 None gnomAD-3.1.2 6.58E-06
17379 11 E/G 13 rs1323809346 0.4572 None gnomAD-4.0.0 3.8559E-06
17379 11 E/Q 13 rs770795675 0.4572 None gnomAD-2.1.1 1.21E-05
17379 11 E/Q 13 rs770795675 0.4572 None gnomAD-3.1.2 6.58E-06
17379 11 E/Q 13 rs770795675 0.4572 None gnomAD-4.0.0 1.67598E-05
17380 12 D/G 14 rs373305248 0.8172 None gnomAD-2.1.1 8.09E-06
17380 12 D/G 14 rs373305248 0.8172 None gnomAD-3.1.2 6.58E-06
17380 12 D/G 14 rs373305248 0.8172 None gnomAD-4.0.0 2.48228E-06
17380 12 D/N 14 rs886042593 0.8172 None gnomAD-3.1.2 1.32E-05
17380 12 D/N 14 rs886042593 0.8172 None gnomAD-4.0.0 1.316E-05
17380 12 D/V 14 rs373305248 0.8172 None gnomAD-2.1.1 7.18E-05
17380 12 D/V 14 rs373305248 0.8172 None gnomAD-3.1.2 7.24E-05
17380 12 D/V 14 rs373305248 0.8172 None gnomAD-4.0.0 9.30923E-05
17381 13 I/M 15 rs2154197961 0.3933 None gnomAD-4.0.0 3.19387E-06
17381 13 I/T 15 rs775637498 0.3933 None gnomAD-2.1.1 1.44E-05
17381 13 I/T 15 rs775637498 0.3933 None gnomAD-3.1.2 1.97E-05
17381 13 I/T 15 rs775637498 0.3933 None gnomAD-4.0.0 7.4477E-06
17382 14 R/G 16 rs397517607 0.6104 None gnomAD-2.1.1 2.7264E-04
17382 14 R/G 16 rs397517607 0.6104 None gnomAD-3.1.2 3.95E-05
17382 14 R/G 16 rs397517607 0.6104 None gnomAD-4.0.0 1.39624E-04
17382 14 R/S 16 None 0.6104 None gnomAD-4.0.0 1.59655E-06
17383 15 K/E 17 None 0.3577 None gnomAD-4.0.0 6.85179E-07
17384 16 T/N 18 rs1307047586 0.4190 None gnomAD-2.1.1 4.04E-06
17384 16 T/N 18 rs1307047586 0.4190 None gnomAD-4.0.0 4.11044E-06
17384 16 T/S 18 None 0.4190 None gnomAD-4.0.0 6.85074E-07
17385 17 S/L 19 rs749493479 0.2178 None gnomAD-2.1.1 8.07E-06
17385 17 S/L 19 rs749493479 0.2178 None gnomAD-4.0.0 3.19139E-06
17386 18 V/I 20 rs1250473011 0.0942 None gnomAD-3.1.2 6.58E-06
17386 18 V/I 20 rs1250473011 0.0942 None gnomAD-4.0.0 6.57921E-06
17387 19 L/H 21 rs2154197942 0.2515 None gnomAD-4.0.0 1.36983E-06
17388 20 C/S 22 None 0.0693 None gnomAD-4.0.0 1.59485E-06
17389 21 K/E 23 rs779439447 0.4010 None gnomAD-2.1.1 4.03E-06
17389 21 K/E 23 rs779439447 0.4010 None gnomAD-4.0.0 1.5947E-06
17392 24 P/T 26 None 0.4409 None gnomAD-4.0.0 1.36961E-06
17393 25 P/L 27 rs1470469789 0.1665 None gnomAD-4.0.0 1.59431E-06
17393 25 P/S 27 rs1481856511 0.1665 None gnomAD-3.1.2 6.58E-06
17393 25 P/S 27 rs1481856511 0.1665 None gnomAD-4.0.0 6.58198E-06
17394 26 L/P 28 rs727503616 1.0985 None gnomAD-3.1.2 6.58E-06
17394 26 L/P 28 rs727503616 1.0985 None gnomAD-4.0.0 2.5666E-06
17395 27 D/E 29 rs1479797110 0.6418 None gnomAD-3.1.2 6.58E-06
17395 27 D/E 29 rs1479797110 0.6418 None gnomAD-4.0.0 4.10842E-06
17397 29 G/D 31 rs2055561994 0.2978 None gnomAD-3.1.2 6.58E-06
17397 29 G/D 31 rs2055561994 0.2978 None gnomAD-4.0.0 6.58111E-06
17398 30 G/A 32 None 0.5770 None gnomAD-4.0.0 1.59417E-06
17398 30 G/S 32 rs2055560855 0.5770 None gnomAD-3.1.2 6.58E-06
17398 30 G/S 32 rs2055560855 0.5770 None gnomAD-4.0.0 2.56651E-06
17398 30 G/V 32 rs1471268523 0.5770 None gnomAD-2.1.1 4.03E-06
17398 30 G/V 32 rs1471268523 0.5770 None gnomAD-3.1.2 6.58E-06
17398 30 G/V 32 rs1471268523 0.5770 None gnomAD-4.0.0 2.56661E-06
17399 31 S/N 33 rs1364503531 0.1440 None gnomAD-2.1.1 4.03E-06
17399 31 S/N 33 rs1364503531 0.1440 None gnomAD-4.0.0 3.18816E-06
17400 32 E/A 34 rs773027240 0.8493 None gnomAD-2.1.1 2.86E-05
17400 32 E/A 34 rs773027240 0.8493 None gnomAD-3.1.2 5.26E-05
17400 32 E/A 34 rs773027240 0.8493 None gnomAD-4.0.0 1.2217E-04
17401 33 I/T 35 rs1410389607 0.1810 None gnomAD-3.1.2 6.58E-06
17401 33 I/T 35 rs1410389607 0.1810 None gnomAD-4.0.0 6.58146E-06
17403 35 N/H 37 rs778111199 0.1999 None gnomAD-2.1.1 4.03E-06
17403 35 N/K 37 None 0.1999 None gnomAD-4.0.0 2.40064E-06
17404 36 Y/C 38 rs2055555146 0.1195 None gnomAD-3.1.2 6.58E-06
17404 36 Y/C 38 rs2055555146 0.1195 None gnomAD-4.0.0 6.57834E-06
17404 36 Y/N 38 rs754650111 0.1195 None gnomAD-2.1.1 4.03E-06
17404 36 Y/N 38 rs754650111 0.1195 None gnomAD-4.0.0 1.36936E-06
17406 38 L/S 40 rs1370237214 0.0696 None gnomAD-4.0.0 2.40065E-06
17407 39 E/G 41 None 0.0984 None gnomAD-4.0.0 1.59376E-06
17408 40 K/N 42 rs751225383 0.2569 None gnomAD-2.1.1 4.03E-06
17408 40 K/N 42 rs751225383 0.2569 None gnomAD-4.0.0 4.78188E-06
17408 40 K/T 42 rs876658066 0.2569 None gnomAD-2.1.1 1.21E-05
17408 40 K/T 42 rs876658066 0.2569 None gnomAD-4.0.0 1.43439E-05
17409 41 K/E 43 rs1203045644 0.1492 None gnomAD-2.1.1 4.03E-06
17409 41 K/E 43 rs1203045644 0.1492 None gnomAD-4.0.0 3.18747E-06
17410 42 D/G 44 rs757885544 0.1768 None gnomAD-2.1.1 1.21E-05
17410 42 D/G 44 rs757885544 0.1768 None gnomAD-4.0.0 4.78126E-06
17410 42 D/H 44 None 0.1768 None gnomAD-4.0.0 1.20032E-06
17410 42 D/V 44 rs757885544 0.1768 None gnomAD-2.1.1 3.19E-05
17410 42 D/V 44 rs757885544 0.1768 None gnomAD-3.1.2 6.58E-06
17410 42 D/V 44 rs757885544 0.1768 None gnomAD-4.0.0 6.5786E-06
17411 43 K/E 50 rs1243357204 0.3290 None gnomAD-2.1.1 4.03E-06
17411 43 K/E 50 rs1243357204 0.3290 None gnomAD-4.0.0 1.59381E-06
17411 43 K/M 50 rs1381230857 0.3290 None gnomAD-2.1.1 4.03E-06
17411 43 K/M 50 rs1381230857 0.3290 None gnomAD-4.0.0 1.36935E-06
17413 45 K/N 60 rs749984408 0.6247 None gnomAD-4.0.0 3.18786E-06
17414 46 P/L 61 rs2154197858 0.6956 None gnomAD-3.1.2 6.58E-06
17414 46 P/L 61 rs2154197858 0.6956 None gnomAD-4.0.0 6.57791E-06
17415 47 D/E 62 rs2055542542 0.9108 None gnomAD-4.0.0 1.5939E-06
17415 47 D/N 62 rs397517609 0.9108 None gnomAD-2.1.1 4.84E-05
17415 47 D/N 62 rs397517609 0.9108 None gnomAD-3.1.2 1.32E-05
17415 47 D/N 62 rs397517609 0.9108 None gnomAD-4.0.0 1.3024E-05
17415 47 D/Y 62 rs397517609 0.9108 None gnomAD-4.0.0 6.84709E-07
17417 49 E/G 64 rs1316644497 0.8899 None gnomAD-2.1.1 4.03E-06
17417 49 E/G 64 rs1316644497 0.8899 None gnomAD-4.0.0 1.59375E-06
17418 50 W/C 65 rs536554790 0.2498 None gnomAD-3.1.2 6.58E-06
17418 50 W/C 65 rs536554790 0.2498 None 1000 genomes 1.99681E-04
17418 50 W/C 65 rs536554790 0.2498 None gnomAD-4.0.0 1.86033E-06
17418 50 W/G 65 rs553106785 0.2498 None gnomAD-2.1.1 4.03E-06
17418 50 W/G 65 rs553106785 0.2498 None gnomAD-4.0.0 1.59377E-06
17418 50 W/R 65 rs553106785 0.2498 None gnomAD-3.1.2 6.58E-06
17418 50 W/R 65 rs553106785 0.2498 None 1000 genomes 1.99681E-04
17418 50 W/R 65 rs553106785 0.2498 None gnomAD-4.0.0 6.57549E-06
17419 51 I/T 66 rs1162756483 0.5292 None gnomAD-2.1.1 1.07E-05
17419 51 I/T 66 rs1162756483 0.5292 None gnomAD-3.1.2 1.32E-05
17419 51 I/T 66 rs1162756483 0.5292 None gnomAD-4.0.0 5.58129E-06
17420 52 V/A 67 rs1295267229 0.3999 None gnomAD-4.0.0 2.054E-06
17420 52 V/F 67 rs1215579052 0.3999 None gnomAD-3.1.2 6.58E-06
17420 52 V/F 67 rs1215579052 0.3999 None gnomAD-4.0.0 6.58077E-06
17420 52 V/G 67 None 0.3999 None gnomAD-4.0.0 1.36934E-06
17421 53 V/F 68 rs1340432964 0.2225 None gnomAD-3.1.2 6.58E-06
17421 53 V/F 68 rs1340432964 0.2225 None gnomAD-4.0.0 8.06204E-06
17423 55 S/P 70 None 0.4212 None gnomAD-4.0.0 1.59378E-06
17424 56 T/I 75 rs1559751874 0.7559 None gnomAD-2.1.1 4.03E-06
17424 56 T/I 75 rs1559751874 0.7559 None gnomAD-3.1.2 6.58E-06
17424 56 T/I 75 rs1559751874 0.7559 None gnomAD-4.0.0 2.48061E-06
17425 57 L/F 77 None 0.1217 None gnomAD-4.0.0 3.42336E-06
17425 57 L/I 77 rs764049705 0.1217 None gnomAD-2.1.1 4.03E-06
17425 57 L/I 77 rs764049705 0.1217 None gnomAD-3.1.2 6.58E-06
17425 57 L/I 77 rs764049705 0.1217 None gnomAD-4.0.0 3.72086E-06
17426 58 R/T 83 None 0.7920 None gnomAD-4.0.0 1.59378E-06
17427 59 H/R 88 rs1387146828 0.8132 None gnomAD-2.1.1 4.03E-06
17427 59 H/R 88 rs1387146828 0.8132 None gnomAD-4.0.0 1.59384E-06
17428 60 C/G 89 rs2055534842 0.1276 None gnomAD-4.0.0 3.18769E-06
17435 67 L/Q 97 rs1060500542 0.1336 None gnomAD-2.1.1 1.21E-05
17435 67 L/Q 97 rs1060500542 0.1336 None gnomAD-4.0.0 3.42372E-06
17435 67 L/V 97 None 0.1336 None gnomAD-4.0.0 6.84748E-07
17436 68 I/M 98 None 0.5206 None gnomAD-4.0.0 6.84743E-07
17436 68 I/T 98 rs774439701 0.5206 None gnomAD-2.1.1 4.04E-06
17436 68 I/T 98 rs774439701 0.5206 None gnomAD-4.0.0 9.58649E-06
17436 68 I/V 98 None 0.5206 None gnomAD-4.0.0 1.59418E-06
17438 70 G/E 100 rs1356720044 0.4476 None gnomAD-2.1.1 8.09E-06
17438 70 G/E 100 rs1356720044 0.4476 None gnomAD-3.1.2 6.58E-06
17438 70 G/E 100 rs1356720044 0.4476 None gnomAD-4.0.0 5.58221E-06
17438 70 G/R 100 None 0.4476 None gnomAD-4.0.0 2.7391E-06
17439 71 K/N 102 None 0.2687 None gnomAD-4.0.0 1.23264E-05
17439 71 K/T 102 rs1293294438 0.2687 None gnomAD-2.1.1 4.04E-06
17439 71 K/T 102 rs1293294438 0.2687 None gnomAD-4.0.0 1.59437E-06
17440 72 E/G 103 rs2055527887 0.2286 None gnomAD-3.1.2 6.58E-06
17440 72 E/G 103 rs2055527887 0.2286 None gnomAD-4.0.0 2.5668E-06
17440 72 E/K 103 None 0.2286 None gnomAD-4.0.0 1.59447E-06
17441 73 Y/H 104 None 0.1275 None gnomAD-4.0.0 1.59462E-06
17442 74 L/V 105 rs2055526499 0.1662 None gnomAD-3.1.2 6.58E-06
17442 74 L/V 105 rs2055526499 0.1662 None gnomAD-4.0.0 6.20279E-06
17443 75 F/S 106 None 0.0821 None gnomAD-4.0.0 1.20032E-06
17444 76 R/C 107 rs778094750 0.1614 None gnomAD-2.1.1 1.22E-05
17444 76 R/C 107 rs778094750 0.1614 None gnomAD-4.0.0 8.21883E-06
17444 76 R/H 107 rs376080116 0.1614 None gnomAD-2.1.1 2.73399E-04
17444 76 R/H 107 rs376080116 0.1614 None gnomAD-3.1.2 1.25026E-04
17444 76 R/H 107 rs376080116 0.1614 None gnomAD-4.0.0 8.31262E-05
17444 76 R/S 107 None 0.1614 None gnomAD-4.0.0 6.84902E-07
17445 77 V/I 108 rs1323206460 0.0611 None gnomAD-2.1.1 4.06E-06
17445 77 V/I 108 rs1323206460 0.0611 None gnomAD-4.0.0 1.91776E-05
17446 78 R/K 109 None 0.3901 None gnomAD-4.0.0 4.10947E-06
17447 79 A/D 110 None 0.0987 None gnomAD-4.0.0 5.47962E-06
17447 79 A/G 110 rs758092362 0.0987 None gnomAD-2.1.1 1.22E-05
17447 79 A/G 110 rs758092362 0.0987 None gnomAD-3.1.2 6.58E-06
17447 79 A/G 110 rs758092362 0.0987 None gnomAD-4.0.0 6.20359E-06
17447 79 A/T 110 rs1367567526 0.0987 None gnomAD-2.1.1 4.06E-06
17447 79 A/T 110 rs1367567526 0.0987 None gnomAD-4.0.0 7.20193E-06
17448 80 E/A 111 None 0.2377 None gnomAD-4.0.0 3.60097E-06
17448 80 E/K 111 rs749894582 0.2377 None gnomAD-2.1.1 4.06E-06
17448 80 E/K 111 rs749894582 0.2377 None gnomAD-4.0.0 4.10979E-06
17448 80 E/Q 111 rs749894582 0.2377 None gnomAD-2.1.1 4.06E-06
17448 80 E/Q 111 rs749894582 0.2377 None gnomAD-4.0.0 6.84965E-07
17449 81 N/K 112 rs1165942763 0.0836 None gnomAD-2.1.1 1.62E-05
17449 81 N/K 112 rs1165942763 0.0836 None gnomAD-3.1.2 1.32E-05
17449 81 N/K 112 rs1165942763 0.0836 None gnomAD-4.0.0 7.70394E-06
17450 82 R/K 113 rs778572247 0.4981 None gnomAD-2.1.1 1.22E-05
17450 82 R/K 113 rs778572247 0.4981 None gnomAD-3.1.2 6.58E-06
17450 82 R/K 113 rs778572247 0.4981 None gnomAD-4.0.0 9.92525E-06
17450 82 R/T 113 None 0.4981 None gnomAD-4.0.0 6.84963E-07
17452 84 G/R 115 rs777777062 0.2010 None gnomAD-4.0.0 3.19082E-06
17452 84 G/V 115 None 0.2010 None gnomAD-4.0.0 1.20032E-06
17453 85 P/S 117 None 0.5336 None gnomAD-4.0.0 1.59554E-06
17454 86 G/D 118 None 0.2076 None gnomAD-4.0.0 3.60097E-06
17455 87 P/A 119 rs757257344 0.4262 None gnomAD-2.1.1 4.07E-06
17455 87 P/A 119 rs757257344 0.4262 None gnomAD-4.0.0 1.59575E-06
17455 87 P/L 119 rs1489703004 0.4262 None gnomAD-2.1.1 4.07E-06
17455 87 P/L 119 rs1489703004 0.4262 None gnomAD-4.0.0 4.11029E-06
17456 88 P/Q 120 None 0.4361 None gnomAD-4.0.0 1.5959E-06
17457 89 C/Y 121 rs368055091 0.1501 None gnomAD-4.0.0 1.20032E-06
17458 90 V/A 122 rs760430370 0.3750 None gnomAD-2.1.1 1.81E-05
17458 90 V/A 122 rs760430370 0.3750 None gnomAD-3.1.2 1.97E-05
17458 90 V/A 122 rs760430370 0.3750 None gnomAD-4.0.0 3.47506E-05
17458 90 V/I 122 rs763928739 0.3750 None gnomAD-2.1.1 4.08E-06
17458 90 V/I 122 rs763928739 0.3750 None gnomAD-4.0.0 4.78947E-06
17461 93 P/S 126 rs2055511936 0.3595 None gnomAD-4.0.0 1.59742E-06
17462 94 L/F 127 None 0.1278 None gnomAD-4.0.0 3.19535E-06
17462 94 L/P 127 rs1216814159 0.1278 None gnomAD-2.1.1 4.09E-06
17462 94 L/P 127 rs1216814159 0.1278 None gnomAD-3.1.2 6.58E-06
17462 94 L/P 127 rs1216814159 0.1278 None gnomAD-4.0.0 8.06969E-06
17463 95 V/A 128 rs2055509870 0.4103 None gnomAD-3.1.2 6.58E-06
17463 95 V/A 128 rs2055509870 0.4103 None gnomAD-4.0.0 6.57713E-06
17463 95 V/M 128 None 0.4103 None gnomAD-4.0.0 1.20032E-06
17464 96 A/P 130 None 0.1101 None gnomAD-4.0.0 1.59904E-06
17464 96 A/T 130 rs2055509243 0.1101 None gnomAD-3.1.2 6.58E-06
17464 96 A/T 130 rs2055509243 0.1101 None gnomAD-4.0.0 3.85911E-06
17464 96 A/V 130 None 0.1101 None gnomAD-4.0.0 1.37143E-06
17466 98 D/G 132 rs377156953 0.4685 None gnomAD-3.1.2 6.58E-06