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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26488 2 P/L 2 None 0.1395 None gnomAD-4.0.0 1.36894E-06
26488 2 P/S 2 None 0.1395 None gnomAD-4.0.0 1.59263E-06
26489 3 G/C 3 rs772724683 0.2389 None gnomAD-2.1.1 4.03E-06
26489 3 G/C 3 rs772724683 0.2389 None gnomAD-4.0.0 1.59269E-06
26489 3 G/S 3 rs772724683 0.2389 None gnomAD-2.1.1 4.03E-06
26489 3 G/S 3 rs772724683 0.2389 None gnomAD-3.1.2 6.58E-06
26489 3 G/S 3 rs772724683 0.2389 None gnomAD-4.0.0 2.56452E-06
26490 4 P/L 4 rs746317804 0.3553 None gnomAD-2.1.1 8.06E-06
26490 4 P/L 4 rs746317804 0.3553 None gnomAD-3.1.2 1.97E-05
26490 4 P/L 4 rs746317804 0.3553 None gnomAD-4.0.0 7.69371E-06
26491 5 P/R 5 rs2154165760 0.1076 None gnomAD-4.0.0 1.59297E-06
26491 5 P/T 5 None 0.1076 None gnomAD-4.0.0 1.59291E-06
26493 7 N/S 7 None 0.5951 None gnomAD-4.0.0 1.20032E-06
26494 8 A/V 9 rs368484949 0.1564 None gnomAD-2.1.1 3.22E-05
26494 8 A/V 9 rs368484949 0.1564 None gnomAD-3.1.2 2.63E-05
26494 8 A/V 9 rs368484949 0.1564 None gnomAD-4.0.0 4.46435E-05
26495 9 H/R 11 None 0.3076 None gnomAD-4.0.0 1.5932E-06
26496 10 I/L 12 None 0.2946 None gnomAD-4.0.0 6.84576E-07
26496 10 I/T 12 rs749600987 0.2946 None gnomAD-2.1.1 1.61E-05
26496 10 I/T 12 rs749600987 0.2946 None gnomAD-4.0.0 4.10748E-06
26496 10 I/V 12 rs757760643 0.2946 None gnomAD-2.1.1 4.03E-06
26496 10 I/V 12 rs757760643 0.2946 None gnomAD-4.0.0 2.7383E-06
26497 11 V/I 13 None 0.3827 None gnomAD-4.0.0 1.5934E-06
26498 12 D/H 14 rs1705981523 0.3559 None gnomAD-4.0.0 1.36926E-06
26499 13 T/A 15 rs780940162 0.1650 None gnomAD-2.1.1 5.25E-05
26499 13 T/A 15 rs780940162 0.1650 None gnomAD-3.1.2 6.58E-06
26499 13 T/A 15 rs780940162 0.1650 None gnomAD-4.0.0 1.42619E-05
26499 13 T/N 15 rs1705978899 0.1650 None gnomAD-4.0.0 4.78133E-06
26500 14 T/A 16 rs1172084404 0.2727 None gnomAD-2.1.1 4.04E-06
26500 14 T/A 16 rs1172084404 0.2727 None gnomAD-4.0.0 2.05398E-06
26500 14 T/I 16 rs1480393355 0.2727 None gnomAD-2.1.1 4.04E-06
26500 14 T/I 16 rs1480393355 0.2727 None gnomAD-4.0.0 2.73885E-06
26500 14 T/S 16 rs1480393355 0.2727 None gnomAD-2.1.1 4.04E-06
26500 14 T/S 16 rs1480393355 0.2727 None gnomAD-4.0.0 1.36942E-06
26501 15 K/E 17 rs1310766903 0.5457 None gnomAD-3.1.2 6.58E-06
26501 15 K/E 17 rs1310766903 0.5457 None gnomAD-4.0.0 6.57505E-06
26502 16 N/D 18 rs1423556952 0.5010 None gnomAD-2.1.1 4.04E-06
26502 16 N/D 18 rs1423556952 0.5010 None gnomAD-4.0.0 9.56319E-06
26502 16 N/T 18 rs1705971546 0.5010 None gnomAD-3.1.2 6.58E-06
26502 16 N/T 18 rs1705971546 0.5010 None gnomAD-4.0.0 6.57618E-06
26504 18 I/V 20 rs200301756 0.0981 None gnomAD-2.1.1 1.62E-05
26504 18 I/V 20 rs200301756 0.0981 None gnomAD-4.0.0 1.09557E-05
26505 19 T/I 21 rs886042786 0.1807 None gnomAD-2.1.1 7.17E-06
26505 19 T/I 21 rs886042786 0.1807 None gnomAD-3.1.2 3.29E-05
26505 19 T/I 21 rs886042786 0.1807 None gnomAD-4.0.0 8.98263E-06
26506 20 L/F 22 rs371783508 0.1078 None gnomAD-2.1.1 8.08E-06
26506 20 L/F 22 rs371783508 0.1078 None gnomAD-3.1.2 1.97E-05
26506 20 L/F 22 rs371783508 0.1078 None gnomAD-4.0.0 2.10873E-05
26506 20 L/I 22 None 0.1078 None gnomAD-4.0.0 1.36958E-06
26506 20 L/P 22 rs1197368510 0.1078 None gnomAD-3.1.2 6.58E-06
26506 20 L/P 22 rs1197368510 0.1078 None gnomAD-4.0.0 3.84946E-06
26506 20 L/V 22 None 0.1078 None gnomAD-4.0.0 6.84792E-07
26507 21 A/D 23 rs538057461 0.1246 None gnomAD-2.1.1 1.08E-05
26507 21 A/D 23 rs538057461 0.1246 None gnomAD-3.1.2 7.89E-05
26507 21 A/D 23 rs538057461 0.1246 None 1000 genomes 1.99681E-04
26507 21 A/D 23 rs538057461 0.1246 None gnomAD-4.0.0 2.69459E-05
26507 21 A/S 23 None 0.1246 None gnomAD-4.0.0 1.36955E-06
26507 21 A/T 23 rs554718474 0.1246 None gnomAD-2.1.1 1.43E-05
26507 21 A/T 23 rs554718474 0.1246 None gnomAD-3.1.2 7.89E-05
26507 21 A/T 23 rs554718474 0.1246 None 1000 genomes 1.99681E-04
26507 21 A/T 23 rs554718474 0.1246 None gnomAD-4.0.0 1.55037E-05
26507 21 A/V 23 rs538057461 0.1246 None gnomAD-2.1.1 4.04E-06
26507 21 A/V 23 rs538057461 0.1246 None gnomAD-4.0.0 1.59444E-06
26508 22 W/C 24 rs765149776 0.1217 None gnomAD-2.1.1 4.04E-06
26508 22 W/C 24 rs765149776 0.1217 None gnomAD-4.0.0 1.59441E-06
26509 23 G/D 25 rs1705957839 0.1813 None gnomAD-4.0.0 1.59437E-06
26509 23 G/S 25 rs1311507525 0.1813 None gnomAD-2.1.1 4.04E-06
26509 23 G/S 25 rs1311507525 0.1813 None gnomAD-4.0.0 1.16413E-05
26511 25 P/L 27 rs1298988924 0.1367 None gnomAD-2.1.1 7.17E-06
26511 25 P/L 27 rs1298988924 0.1367 None gnomAD-3.1.2 6.58E-06
26511 25 P/L 27 rs1298988924 0.1367 None gnomAD-4.0.0 1.24042E-06
26513 27 Y/C 29 rs1575685631 0.5276 None gnomAD-4.0.0 4.793E-06
26516 30 G/D 32 None 0.5033 None gnomAD-4.0.0 1.59388E-06
26516 30 G/S 32 rs776256093 0.5033 None gnomAD-2.1.1 3.58E-05
26516 30 G/S 32 rs776256093 0.5033 None gnomAD-3.1.2 1.51264E-04
26516 30 G/S 32 rs776256093 0.5033 None gnomAD-4.0.0 2.66654E-05
26517 31 S/G 33 None 0.2014 None gnomAD-4.0.0 6.84635E-07
26517 31 S/R 33 rs1559352866 0.2014 None gnomAD-2.1.1 4.04E-06
26517 31 S/R 33 rs1559352866 0.2014 None gnomAD-4.0.0 1.36927E-06
26521 35 G/E 37 None 0.1216 None gnomAD-4.0.0 4.77957E-06
26521 35 G/R 37 None 0.1216 None gnomAD-4.0.0 2.05372E-06
26522 36 Y/C 38 None 0.1410 None gnomAD-4.0.0 1.59299E-06
26523 37 V/A 39 None 0.2316 None gnomAD-4.0.0 1.20032E-06
26524 38 V/A 40 None 0.0888 None gnomAD-4.0.0 1.59276E-06
26524 38 V/L 40 rs1705941525 0.0888 None gnomAD-3.1.2 6.58E-06
26524 38 V/L 40 rs1705941525 0.0888 None gnomAD-4.0.0 6.57635E-06
26525 39 E/G 41 rs760756282 0.1424 None gnomAD-2.1.1 4.03E-06
26525 39 E/G 41 rs760756282 0.1424 None gnomAD-4.0.0 2.73782E-06
26526 40 I/T 42 None 0.1306 None gnomAD-4.0.0 3.18506E-06
26526 40 I/V 42 None 0.1306 None gnomAD-4.0.0 1.59255E-06
26528 42 K/E 44 rs775724652 0.2943 None gnomAD-2.1.1 1.21E-05
26528 42 K/E 44 rs775724652 0.2943 None gnomAD-3.1.2 1.97E-05
26528 42 K/E 44 rs775724652 0.2943 None gnomAD-4.0.0 3.09947E-06
26529 43 A/T 50 None 0.1974 None gnomAD-4.0.0 4.10648E-06
26530 44 D/V 54 None 0.6077 None gnomAD-4.0.0 1.59226E-06
26531 45 E/D 60 None 0.3339 None gnomAD-4.0.0 1.20033E-06
26531 45 E/K 60 rs772211147 0.3339 None gnomAD-2.1.1 8.06E-06
26531 45 E/K 60 rs772211147 0.3339 None gnomAD-4.0.0 1.9163E-05
26532 46 E/K 63 rs964829504 0.9730 None gnomAD-2.1.1 8.06E-06
26532 46 E/K 63 rs964829504 0.9730 None gnomAD-3.1.2 6.58E-06
26532 46 E/K 63 rs964829504 0.9730 None gnomAD-4.0.0 3.09936E-06
26532 46 E/Q 63 None 0.9730 None gnomAD-4.0.0 6.84392E-07
26533 47 E/K 64 None 0.8945 None gnomAD-4.0.0 1.20033E-06
26534 48 W/R 65 rs1559352435 0.2905 None gnomAD-2.1.1 4.03E-06
26534 48 W/R 65 rs1559352435 0.2905 None gnomAD-4.0.0 6.84341E-07
26536 50 I/T 67 rs371134175 0.4578 None gnomAD-3.1.2 1.32E-05
26536 50 I/T 67 rs371134175 0.4578 None gnomAD-4.0.0 3.84529E-06
26536 50 I/V 67 None 0.4578 None gnomAD-4.0.0 1.59204E-06
26537 51 V/D 68 rs745936423 0.2041 None gnomAD-2.1.1 4.03E-06
26537 51 V/D 68 rs745936423 0.2041 None gnomAD-4.0.0 1.36868E-06
26537 51 V/L 68 rs1019110358 0.2041 None gnomAD-2.1.1 4.03E-06
26537 51 V/L 68 rs1019110358 0.2041 None gnomAD-4.0.0 2.25836E-05
26538 52 T/A 69 rs150682764 0.1663 None gnomAD-2.1.1 3.68254E-04
26538 52 T/A 69 rs150682764 0.1663 None gnomAD-3.1.2 9.86582E-04
26538 52 T/A 69 rs150682764 0.1663 None 1000 genomes 2.59585E-03
26538 52 T/A 69 rs150682764 0.1663 None gnomAD-4.0.0 2.2437E-04
26538 52 T/S 69 rs1254178155 0.1663 None gnomAD-2.1.1 4.03E-06
26538 52 T/S 69 rs1254178155 0.1663 None gnomAD-4.0.0 1.59208E-06
26542 56 G/D 75 rs1308248191 0.1986 None gnomAD-2.1.1 4.03E-06
26542 56 G/D 75 rs1308248191 0.1986 None gnomAD-3.1.2 6.58E-06
26542 56 G/D 75 rs1308248191 0.1986 None gnomAD-4.0.0 6.57678E-06
26542 56 G/V 75 rs1308248191 0.1986 None gnomAD-3.1.2 6.58E-06
26542 56 G/V 75 rs1308248191 0.1986 None gnomAD-4.0.0 6.57678E-06
26543 57 L/P 77 rs1237559508 0.1929 None gnomAD-2.1.1 4.03E-06
26543 57 L/P 77 rs1237559508 0.1929 None gnomAD-4.0.0 3.18385E-06
26544 58 R/K 83 rs1008452641 0.7167 None gnomAD-2.1.1 4.03E-06
26544 58 R/K 83 rs1008452641 0.7167 None gnomAD-3.1.2 6.58E-06
26544 58 R/K 83 rs1008452641 0.7167 None gnomAD-4.0.0 3.09919E-06
26544 58 R/S 83 rs1309466474 0.7167 None gnomAD-2.1.1 4.03E-06
26544 58 R/S 83 rs1309466474 0.7167 None gnomAD-4.0.0 1.59189E-06
26546 60 T/A 89 rs775053902 0.2180 None gnomAD-2.1.1 2.42E-05
26546 60 T/A 89 rs775053902 0.2180 None gnomAD-3.1.2 1.31E-05
26546 60 T/A 89 rs775053902 0.2180 None gnomAD-4.0.0 5.45432E-05
26547 61 R/Q 90 rs771534555 0.7070 None gnomAD-2.1.1 3.22E-05
26547 61 R/Q 90 rs771534555 0.7070 None gnomAD-3.1.2 1.32E-05
26547 61 R/Q 90 rs771534555 0.7070 None gnomAD-4.0.0 2.60335E-05
26550 64 I/T 93 None 0.1396 None gnomAD-4.0.0 1.20032E-06
26552 66 K/N 96 rs1305128121 0.9198 None gnomAD-2.1.1 8.05E-06
26552 66 K/N 96 rs1305128121 0.9198 None gnomAD-4.0.0 7.95932E-06
26553 67 L/P 97 rs1705907703 0.1335 None gnomAD-3.1.2 6.58E-06
26553 67 L/P 97 rs1705907703 0.1335 None gnomAD-4.0.0 6.57549E-06
26553 67 L/V 97 None 0.1335 None gnomAD-4.0.0 6.84334E-07
26557 71 Q/E 102 rs1705903957 0.1759 None gnomAD-4.0.0 6.84361E-07
26558 72 E/A 103 None 0.3091 None gnomAD-4.0.0 2.73734E-06
26558 72 E/K 103 rs1466993099 0.3091 None gnomAD-2.1.1 8.05E-06
26558 72 E/K 103 rs1466993099 0.3091 None gnomAD-4.0.0 2.73741E-06
26558 72 E/Q 103 None 0.3091 None gnomAD-4.0.0 2.73741E-06
26558 72 E/V 103 rs1026820295 0.3091 None gnomAD-4.0.0 1.36867E-06
26560 74 K/E 105 rs994825543 0.1979 None gnomAD-4.0.0 3.42168E-06
26560 74 K/T 105 None 0.1979 None gnomAD-4.0.0 1.59196E-06
26561 75 I/L 106 rs777951468 0.1313 None gnomAD-2.1.1 2.01E-05
26561 75 I/L 106 rs777951468 0.1313 None gnomAD-4.0.0 5.4748E-06
26561 75 I/M 106 rs558767363 0.1313 None gnomAD-2.1.1 4.03E-06
26561 75 I/M 106 rs558767363 0.1313 None gnomAD-3.1.2 6.58E-06
26561 75 I/M 106 rs558767363 0.1313 None 1000 genomes 1.99681E-04
26561 75 I/M 106 rs558767363 0.1313 None gnomAD-4.0.0 2.02981E-06
26561 75 I/T 106 rs754674270 0.1313 None gnomAD-2.1.1 4.03E-06
26561 75 I/T 106 rs754674270 0.1313 None gnomAD-4.0.0 1.59196E-06
26561 75 I/V 106 rs777951468 0.1313 None gnomAD-2.1.1 4.03E-06
26561 75 I/V 106 rs777951468 0.1313 None gnomAD-4.0.0 6.8435E-07
26562 76 R/Q 107 rs538960023 0.1523 None gnomAD-2.1.1 5.72E-05
26562 76 R/Q 107 rs538960023 0.1523 None gnomAD-3.1.2 3.29E-05
26562 76 R/Q 107 rs538960023 0.1523 None 1000 genomes 1.99681E-04
26562 76 R/Q 107 rs538960023 0.1523 None gnomAD-4.0.0 3.71881E-05
26565 79 A/V 110 rs765196786 0.1089 None gnomAD-2.1.1 3.19E-05
26565 79 A/V 110 rs765196786 0.1089 None gnomAD-3.1.2 6.58E-06
26566 80 L/I 111 None 0.2515 None gnomAD-4.0.0 1.36872E-06
26566 80 L/P 111 None 0.2515 None gnomAD-4.0.0 3.24087E-05
26567 81 N/I 112 None 0.0998 None gnomAD-4.0.0 6.84343E-07
26567 81 N/S 112 rs183844833 0.0998 None gnomAD-2.1.1 1.33998E-03
26567 81 N/S 112 rs183844833 0.0998 None gnomAD-3.1.2 6.83725E-04
26567 81 N/S 112 rs183844833 0.0998 None 1000 genomes 2.99521E-03
26567 81 N/S 112 rs183844833 0.0998 None gnomAD-4.0.0 3.40258E-04
26568 82 K/E 113 rs753685639 0.5832 None gnomAD-2.1.1 4.02E-06
26568 82 K/E 113 rs753685639 0.5832 None gnomAD-4.0.0 1.59195E-06
26569 83 V/L 114 None 0.5455 None gnomAD-4.0.0 1.20032E-06
26570 84 G/D 115 None 0.1892 None gnomAD-4.0.0 1.20032E-06
26571 85 L/F 117 rs879058004 0.5542 None gnomAD-3.1.2 6.57E-06
26571 85 L/F 117 rs879058004 0.5542 None gnomAD-4.0.0 3.8447E-06
26571 85 L/I 117 None 0.5542 None gnomAD-4.0.0 4.80129E-06
26572 86 G/A 118 None 0.2250 None gnomAD-4.0.0 3.18391E-06
26573 87 E/G 119 None 0.6220 None gnomAD-4.0.0 6.84334E-07
26574 88 A/D 120 None 0.3106 None gnomAD-4.0.0 1.20032E-06
26575 89 T/P 121 rs1705878064 0.1916 None gnomAD-3.1.2 6.57E-06
26575 89 T/P 121 rs1705878064 0.1916 None gnomAD-4.0.0 2.03E-06
26578 92 P/R 124 rs1286290994 0.7757 None gnomAD-2.1.1 4.02E-06
26578 92 P/R 124 rs1286290994 0.7757 None gnomAD-4.0.0 3.18376E-06
26579 93 G/D 125 None 0.5916 None gnomAD-4.0.0 6.84322E-07
26580 94 T/I 126 None 0.4491 None gnomAD-4.0.0 1.20032E-06
26581 95 V/G 127 None 0.2120 None gnomAD-4.0.0 1.59183E-06
26581 95 V/M 127 None 0.2120 None gnomAD-4.0.0 1.59189E-06
26582 96 K/Q 129 rs775918922 0.2834 None gnomAD-2.1.1 1.61E-05
26582 96 K/Q 129 rs775918922 0.2834 None gnomAD-4.0.0 6.36736E-06
26582 96 K/T 129 None 0.2834 None gnomAD-4.0.0 2.40065E-06
26583 97 P/L 130 None 0.0682 None gnomAD-4.0.0 6.84321E-07
26585 99 D/N 132 rs771202190 0.5297 None gnomAD-4.0.0 4.80129E-06