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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22452 2 P/A 2 rs760822987 0.1326 None gnomAD-2.1.1 1.22E-05
22452 2 P/A 2 rs760822987 0.1326 None gnomAD-4.0.0 2.05388E-06
22452 2 P/H 2 rs775911087 0.1326 None gnomAD-2.1.1 2.03E-05
22452 2 P/H 2 rs775911087 0.1326 None gnomAD-4.0.0 5.57717E-05
22452 2 P/S 2 rs760822987 0.1326 None gnomAD-2.1.1 4.06E-06
22452 2 P/S 2 rs760822987 0.1326 None gnomAD-3.1.2 6.58E-06
22452 2 P/S 2 rs760822987 0.1326 None gnomAD-4.0.0 1.4262E-05
22452 2 P/T 2 None 0.1326 None gnomAD-2.1.1 2.03E-05
22452 2 P/T 2 None 0.1326 None gnomAD-4.0.0 2.39619E-05
22453 3 G/R 3 rs373706642 0.3035 None gnomAD-2.1.1 1.44E-05
22453 3 G/R 3 rs373706642 0.3035 None gnomAD-3.1.2 1.32E-05
22453 3 G/R 3 rs373706642 0.3035 None gnomAD-4.0.0 6.41399E-06
22454 4 P/A 4 rs1357187805 0.5184 None gnomAD-2.1.1 4.05E-06
22454 4 P/A 4 rs1357187805 0.5184 None gnomAD-4.0.0 1.59334E-06
22455 5 V/I 5 rs759848349 0.1204 None gnomAD-2.1.1 1.62E-05
22455 5 V/I 5 rs759848349 0.1204 None gnomAD-3.1.2 3.29E-05
22455 5 V/I 5 rs759848349 0.1204 None gnomAD-4.0.0 1.7978E-05
22455 5 V/L 5 rs759848349 0.1204 None gnomAD-2.1.1 4.05E-06
22455 5 V/L 5 rs759848349 0.1204 None gnomAD-3.1.2 6.58E-06
22455 5 V/L 5 rs759848349 0.1204 None gnomAD-4.0.0 3.09965E-06
22456 6 V/M 6 rs2047288544 0.2059 None gnomAD-3.1.2 1.97E-05
22456 6 V/M 6 rs2047288544 0.2059 None gnomAD-4.0.0 1.97275E-05
22457 7 D/A 7 rs1023600080 0.3897 None gnomAD-3.1.2 1.97E-05
22457 7 D/A 7 rs1023600080 0.3897 None gnomAD-4.0.0 7.43906E-06
22457 7 D/H 7 rs774749791 0.3897 None gnomAD-2.1.1 8.09E-06
22457 7 D/H 7 rs774749791 0.3897 None gnomAD-4.0.0 4.10666E-06
22458 8 L/P 9 None 0.2142 None gnomAD-4.0.0 1.59238E-06
22460 10 V/G 12 None 0.2782 None gnomAD-4.0.0 1.20032E-06
22460 10 V/L 12 rs769408902 0.2782 None gnomAD-2.1.1 1.21E-05
22460 10 V/L 12 rs769408902 0.2782 None gnomAD-4.0.0 1.36882E-06
22460 10 V/M 12 rs769408902 0.2782 None gnomAD-4.0.0 6.84411E-07
22461 11 R/K 13 None 0.5632 None gnomAD-4.0.0 3.18459E-06
22461 11 R/W 13 None 0.5632 None gnomAD-4.0.0 3.1846E-06
22463 13 V/L 15 rs1162620445 0.4585 None gnomAD-2.1.1 3.19E-05
22463 13 V/L 15 rs1162620445 0.4585 None gnomAD-3.1.2 6.58E-06
22463 13 V/L 15 rs1162620445 0.4585 None gnomAD-4.0.0 6.57566E-06
22464 14 S/P 16 rs1430161296 0.2873 None gnomAD-2.1.1 3.19E-05
22464 14 S/P 16 rs1430161296 0.2873 None gnomAD-3.1.2 6.58E-06
22464 14 S/P 16 rs1430161296 0.2873 None gnomAD-4.0.0 6.40934E-06
22465 15 K/T 17 rs761425517 0.6003 None gnomAD-2.1.1 4.04E-06
22465 15 K/T 17 rs761425517 0.6003 None gnomAD-4.0.0 1.59223E-06
22467 17 S/F 19 None 0.3103 None gnomAD-4.0.0 1.59227E-06
22467 17 S/P 19 rs1470231213 0.3103 None gnomAD-4.0.0 6.8439E-07
22467 17 S/T 19 None 0.3103 None gnomAD-4.0.0 6.8439E-07
22468 18 C/G 20 rs776356515 0.1441 None gnomAD-2.1.1 4.04E-06
22468 18 C/G 20 rs776356515 0.1441 None gnomAD-4.0.0 1.20032E-06
22468 18 C/Y 20 rs767981131 0.1441 None gnomAD-2.1.1 4.04E-06
22468 18 C/Y 20 rs767981131 0.1441 None gnomAD-4.0.0 1.59228E-06
22469 19 S/R 21 rs753623758 0.2476 None gnomAD-2.1.1 4.04E-06
22469 19 S/R 21 rs753623758 0.2476 None gnomAD-3.1.2 6.58E-06
22469 19 S/R 21 rs753623758 0.2476 None gnomAD-4.0.0 3.09941E-06
22470 20 I/T 22 rs746559118 0.1038 None gnomAD-2.1.1 8.08E-06
22470 20 I/T 22 rs746559118 0.1038 None gnomAD-3.1.2 1.32E-05
22470 20 I/T 22 rs746559118 0.1038 None gnomAD-4.0.0 4.33923E-06
22471 21 G/S 23 None 0.1099 None gnomAD-4.0.0 1.59234E-06
22473 23 K/E 25 rs1164219894 0.4333 None gnomAD-4.0.0 2.05323E-06
22474 24 K/N 26 rs780089189 0.6559 None gnomAD-2.1.1 8.07E-06
22474 24 K/N 26 rs780089189 0.6559 None gnomAD-4.0.0 1.36882E-06
22476 26 H/N 28 None 0.9869 None gnomAD-4.0.0 1.20033E-06
22476 26 H/R 28 rs2047271045 0.9869 None gnomAD-3.1.2 6.58E-06
22476 26 H/R 28 rs2047271045 0.9869 None gnomAD-4.0.0 6.57609E-06
22479 29 G/A 31 None 0.3582 None gnomAD-4.0.0 1.20032E-06
22479 29 G/D 31 rs2047268988 0.3582 None gnomAD-4.0.0 1.20032E-06
22479 29 G/S 31 rs1195666746 0.3582 None gnomAD-2.1.1 4.04E-06
22479 29 G/S 31 rs1195666746 0.3582 None gnomAD-4.0.0 3.1845E-06
22480 30 G/R 32 rs778919674 0.6678 None gnomAD-4.0.0 1.59229E-06
22481 31 S/R 33 rs1268356218 0.2408 None gnomAD-2.1.1 4.03E-06
22481 31 S/R 33 rs1268356218 0.2408 None gnomAD-4.0.0 1.59227E-06
22482 32 R/L 34 None 0.8418 None gnomAD-4.0.0 2.05321E-06
22482 32 R/Q 34 rs200146608 0.8418 None gnomAD-2.1.1 1.61177E-04
22482 32 R/Q 34 rs200146608 0.8418 None gnomAD-3.1.2 1.1843E-04
22482 32 R/Q 34 rs200146608 0.8418 None 1000 genomes 3.99361E-04
22482 32 R/Q 34 rs200146608 0.8418 None gnomAD-4.0.0 1.05378E-04
22482 32 R/W 34 rs563233842 0.8418 None gnomAD-2.1.1 4.47743E-04
22482 32 R/W 34 rs563233842 0.8418 None gnomAD-3.1.2 1.77732E-04
22482 32 R/W 34 rs563233842 0.8418 None 1000 genomes 1.39776E-03
22482 32 R/W 34 rs563233842 0.8418 None gnomAD-4.0.0 2.16965E-04
22483 33 I/V 35 rs1291879446 0.1675 None gnomAD-2.1.1 4.03E-06
22483 33 I/V 35 rs1291879446 0.1675 None gnomAD-4.0.0 1.59227E-06
22484 34 I/L 36 None 0.4114 None gnomAD-4.0.0 6.84401E-07
22484 34 I/T 36 rs903308296 0.4114 None gnomAD-2.1.1 4.03E-06
22484 34 I/T 36 rs903308296 0.4114 None gnomAD-3.1.2 6.58E-06
22484 34 I/T 36 rs903308296 0.4114 None gnomAD-4.0.0 2.16964E-05
22484 34 I/V 36 None 0.4114 None gnomAD-4.0.0 6.84401E-07
22487 37 V/A 39 rs879097484 0.1053 None gnomAD-4.0.0 2.05323E-06
22488 38 V/I 40 rs1553622498 0.0726 None gnomAD-4.0.0 1.20032E-06
22489 39 D/H 41 None 0.1156 None gnomAD-4.0.0 1.59238E-06
22490 40 F/I 42 rs924529776 0.1900 None gnomAD-2.1.1 4.03E-06
22490 40 F/I 42 rs924529776 0.1900 None gnomAD-3.1.2 6.58E-06
22490 40 F/I 42 rs924529776 0.1900 None gnomAD-4.0.0 6.57722E-06
22492 42 T/N 44 rs1268182721 0.1783 None gnomAD-2.1.1 4.03E-06
22492 42 T/S 44 None 0.1783 None gnomAD-4.0.0 2.05322E-06
22495 45 N/S 63 None 0.7453 None gnomAD-4.0.0 2.05318E-06
22496 46 K/R 64 rs397517669 0.4555 None gnomAD-2.1.1 1.61E-05
22496 46 K/R 64 rs397517669 0.4555 None gnomAD-4.0.0 1.43722E-05
22497 47 W/R 65 rs1282105128 0.2976 None gnomAD-2.1.1 4.03E-06
22497 47 W/R 65 rs1282105128 0.2976 None gnomAD-4.0.0 1.59225E-06
22499 49 R/G 67 rs574660186 0.2814 None gnomAD-4.0.0 3.42206E-06
22499 49 R/Q 67 rs767993624 0.2814 None gnomAD-2.1.1 3.94E-05
22499 49 R/Q 67 rs767993624 0.2814 None gnomAD-3.1.2 1.97E-05
22499 49 R/Q 67 rs767993624 0.2814 None gnomAD-4.0.0 1.23986E-05
22500 50 V/G 68 rs760079543 0.2181 None gnomAD-4.0.0 1.20032E-06
22501 51 M/I 69 rs751903421 0.1808 None gnomAD-2.1.1 8.06E-06
22501 51 M/I 69 rs751903421 0.1808 None gnomAD-4.0.0 1.77943E-05
22501 51 M/L 69 None 0.1808 None gnomAD-4.0.0 1.59229E-06
22501 51 M/T 69 rs2047253613 0.1808 None gnomAD-4.0.0 2.73757E-06
22501 51 M/V 69 None 0.1808 None gnomAD-4.0.0 1.59229E-06
22502 52 K/N 70 None 0.5076 None gnomAD-4.0.0 1.59224E-06
22503 53 S/F 72 None 0.3197 None gnomAD-4.0.0 6.84396E-07
22503 53 S/P 72 None 0.3197 None gnomAD-4.0.0 1.20032E-06
22503 53 S/Y 72 None 0.3197 None gnomAD-4.0.0 2.73758E-06
22505 55 S/R 88 None 0.2454 None gnomAD-4.0.0 1.20032E-06
22506 56 L/P 89 None 0.2296 None gnomAD-4.0.0 1.59225E-06
22507 57 Q/H 90 None 0.6137 None gnomAD-4.0.0 1.5922E-06
22508 58 Y/D 91 rs763377678 0.2231 None gnomAD-2.1.1 1.21E-05
22508 58 Y/D 91 rs763377678 0.2231 None gnomAD-4.0.0 3.18439E-06
22508 58 Y/F 91 None 0.2231 None gnomAD-4.0.0 1.20032E-06
22508 58 Y/N 91 None 0.2231 None gnomAD-2.1.1 7.15E-06
22508 58 Y/N 91 None 0.2231 None gnomAD-3.1.2 6.58E-06
22508 58 Y/N 91 None 0.2231 None gnomAD-4.0.0 6.57652E-06
22509 59 S/P 92 None 0.4206 None gnomAD-4.0.0 1.59222E-06
22510 60 A/T 93 rs1394859997 0.1587 None gnomAD-2.1.1 4.03E-06
22511 61 K/R 94 rs368046394 0.8068 None gnomAD-2.1.1 8.06E-06
22511 61 K/R 94 rs368046394 0.8068 None gnomAD-4.0.0 2.05314E-06
22512 62 D/E 96 rs760531418 0.8320 None gnomAD-4.0.0 1.08029E-05
22512 62 D/G 96 None 0.8320 None gnomAD-4.0.0 1.20032E-06
22512 62 D/Y 96 rs786205540 0.8320 None gnomAD-4.0.0 3.18433E-06
22513 63 L/M 97 None 0.1352 None gnomAD-4.0.0 6.84372E-07
22514 64 T/I 98 rs544847834 0.4454 None gnomAD-2.1.1 1.21E-05
22514 64 T/I 98 rs544847834 0.4454 None gnomAD-3.1.2 1.32E-05
22514 64 T/I 98 rs544847834 0.4454 None 1000 genomes 3.99361E-04
22514 64 T/I 98 rs544847834 0.4454 None gnomAD-4.0.0 4.33885E-06
22514 64 T/S 98 rs561270636 0.4454 None gnomAD-2.1.1 8.05E-06
22514 64 T/S 98 rs561270636 0.4454 None gnomAD-3.1.2 6.58E-06
22514 64 T/S 98 rs561270636 0.4454 None 1000 genomes 1.99681E-04
22514 64 T/S 98 rs561270636 0.4454 None gnomAD-4.0.0 3.09914E-06
22516 66 G/R 100 rs1199563785 0.3987 None gnomAD-2.1.1 4.03E-06
22516 66 G/R 100 rs1199563785 0.3987 None gnomAD-4.0.0 1.59214E-06
22517 67 K/R 102 None 0.2864 None gnomAD-4.0.0 2.40078E-06
22518 68 E/K 103 rs371063328 0.5774 None gnomAD-2.1.1 8.05E-06
22518 68 E/K 103 rs371063328 0.5774 None gnomAD-3.1.2 1.32E-05
22518 68 E/K 103 rs371063328 0.5774 None gnomAD-4.0.0 1.31543E-05
22518 68 E/Q 103 None 0.5774 None gnomAD-4.0.0 2.40078E-06
22519 69 Y/D 104 rs779007987 0.1473 None gnomAD-2.1.1 4.03E-06
22519 69 Y/D 104 rs779007987 0.1473 None gnomAD-4.0.0 6.15957E-06
22522 72 R/K 107 None 0.1599 None gnomAD-4.0.0 4.79053E-06
22522 72 R/T 107 rs1221271318 0.1599 None gnomAD-2.1.1 4.03E-06
22522 72 R/T 107 rs1221271318 0.1599 None gnomAD-4.0.0 1.36872E-06
22523 73 V/G 108 rs1274914285 0.0902 None gnomAD-2.1.1 4.03E-06
22524 74 S/N 109 rs397517670 0.1365 None gnomAD-2.1.1 2.01E-05
22524 74 S/N 109 rs397517670 0.1365 None gnomAD-3.1.2 1.32E-05
22524 74 S/N 109 rs397517670 0.1365 None gnomAD-4.0.0 2.16952E-05
22525 75 A/D 110 None 0.1083 None gnomAD-4.0.0 1.36873E-06
22525 75 A/V 110 rs781320550 0.1083 None gnomAD-2.1.1 4.03E-06
22525 75 A/V 110 rs781320550 0.1083 None gnomAD-4.0.0 2.73746E-06
22526 76 E/D 111 rs751993220 0.1893 None gnomAD-2.1.1 1.61E-05
22526 76 E/D 111 rs751993220 0.1893 None gnomAD-4.0.0 6.36831E-06
22528 78 E/K 113 rs1416365418 0.7468 None gnomAD-2.1.1 4.03E-06
22528 78 E/K 113 rs1416365418 0.7468 None gnomAD-3.1.2 6.58E-06
22528 78 E/K 113 rs1416365418 0.7468 None gnomAD-4.0.0 3.84521E-06
22529 79 N/S 114 None 0.7042 None gnomAD-4.0.0 4.1062E-06
22530 80 G/A 115 rs1198096692 0.2188 None gnomAD-2.1.1 4.03E-06
22530 80 G/A 115 rs1198096692 0.2188 None gnomAD-4.0.0 1.59211E-06
22530 80 G/V 115 rs1198096692 0.2188 None gnomAD-3.1.2 6.58E-06
22530 80 G/V 115 rs1198096692 0.2188 None gnomAD-4.0.0 6.57739E-06
22531 81 E/D 117 None 0.3795 None gnomAD-4.0.0 6.84367E-07
22531 81 E/V 117 None 0.3795 None gnomAD-4.0.0 6.84363E-07
22533 83 T/I 119 rs2047233269 0.6333 None gnomAD-4.0.0 1.20032E-06
22535 85 S/N 121 rs375676529 0.1991 None gnomAD-2.1.1 7.88E-05
22535 85 S/N 121 rs375676529 0.1991 None gnomAD-3.1.2 1.24969E-04
22535 85 S/N 121 rs375676529 0.1991 None gnomAD-4.0.0 1.20259E-04
22535 85 S/R 121 rs750847940 0.1991 None gnomAD-2.1.1 8.07E-06
22535 85 S/R 121 rs750847940 0.1991 None gnomAD-3.1.2 6.58E-06
22535 85 S/R 121 rs750847940 0.1991 None gnomAD-4.0.0 6.84406E-07
22536 86 E/K 122 rs371105318 0.3963 None gnomAD-2.1.1 2.15E-05
22536 86 E/K 122 rs371105318 0.3963 None gnomAD-3.1.2 5.92E-05
22536 86 E/K 122 rs371105318 0.3963 None gnomAD-4.0.0 3.78144E-05
22537 87 I/F 123 None 0.1872 None gnomAD-4.0.0 6.84391E-07
22537 87 I/L 123 rs2047230730 0.1872 None gnomAD-4.0.0 2.05317E-06
22537 87 I/T 123 None 0.1872 None gnomAD-4.0.0 1.20032E-06
22539 89 V/A 127 rs1553622176 0.1840 None gnomAD-4.0.0 1.20032E-06
22539 89 V/F 127 rs558955595 0.1840 None gnomAD-2.1.1 4.04E-06
22539 89 V/F 127 rs558955595 0.1840 None gnomAD-4.0.0 6.84421E-07
22539 89 V/I 127 rs558955595 0.1840 None gnomAD-2.1.1 2.87E-05
22539 89 V/I 127 rs558955595 0.1840 None gnomAD-3.1.2 7.89E-05
22539 89 V/I 127 rs558955595 0.1840 None 1000 genomes 1.99681E-04
22539 89 V/I 127 rs558955595 0.1840 None gnomAD-4.0.0 1.54964E-05
22540 90 V/L 129 None 0.2753 None gnomAD-4.0.0 1.20032E-06
22543 93 D/N 132 rs1283302985 0.9481 None gnomAD-3.1.2 6.58E-06
22543 93 D/N 132 rs1283302985 0.9481 None gnomAD-4.0.0 6.5767E-06