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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8456 1 P/L 1 rs1308450887 0.3390 None gnomAD-3.1.2 6.57E-06
8456 1 P/L 1 rs1308450887 0.3390 None gnomAD-4.0.0 6.57099E-06
8456 1 P/R 1 None 0.3390 None gnomAD-4.0.0 1.20032E-06
8456 1 P/T 1 None 0.3390 None gnomAD-4.0.0 1.20032E-06
8460 5 L/Q 5 None 0.5400 None gnomAD-4.0.0 1.20032E-06
8462 7 P/H 8 rs1249885767 0.1885 None gnomAD-2.1.1 1.43E-05
8462 7 P/H 8 rs1249885767 0.1885 None gnomAD-3.1.2 1.97E-05
8462 7 P/H 8 rs1249885767 0.1885 None gnomAD-4.0.0 4.96379E-06
8462 7 P/S 8 None 0.1885 None gnomAD-4.0.0 1.20032E-06
8463 8 V/I 9 rs767424522 0.7666 None gnomAD-2.1.1 4.03E-06
8463 8 V/I 9 rs767424522 0.7666 None gnomAD-4.0.0 1.59345E-06
8465 10 V/G 13 None 0.3052 None gnomAD-4.0.0 1.20032E-06
8466 11 D/E 14 rs72648986 0.6952 None gnomAD-2.1.1 1.10534E-02
8466 11 D/E 14 rs72648986 0.6952 None gnomAD-3.1.2 2.39604E-02
8466 11 D/E 14 rs72648986 0.6952 None 1000 genomes 2.8754E-02
8466 11 D/E 14 rs72648986 0.6952 None gnomAD-4.0.0 6.60199E-03
8466 11 D/G 14 rs773229351 0.6952 None gnomAD-2.1.1 7.15E-06
8466 11 D/G 14 rs773229351 0.6952 None gnomAD-3.1.2 1.31E-05
8466 11 D/G 14 rs773229351 0.6952 None gnomAD-4.0.0 5.12636E-06
8466 11 D/H 14 rs372994306 0.6952 None gnomAD-2.1.1 2.82E-05
8466 11 D/H 14 rs372994306 0.6952 None gnomAD-3.1.2 1.31E-05
8466 11 D/H 14 rs372994306 0.6952 None gnomAD-4.0.0 2.29344E-05
8468 13 A/V 18 rs762161074 0.3273 None gnomAD-2.1.1 4.02E-06
8468 13 A/V 18 rs762161074 0.3273 None gnomAD-4.0.0 1.59207E-06
8469 14 L/F 23 None 0.7158 None gnomAD-4.0.0 2.40064E-06
8470 15 G/A 24 None 0.3029 None gnomAD-4.0.0 1.59189E-06
8472 17 S/G 26 rs2077634946 0.5659 None gnomAD-4.0.0 6.84306E-07
8472 17 S/N 26 None 0.5659 None gnomAD-4.0.0 6.8431E-07
8472 17 S/R 26 None 0.5659 None gnomAD-4.0.0 6.84306E-07
8472 17 S/T 26 rs374912661 0.5659 None gnomAD-2.1.1 4.42E-05
8472 17 S/T 26 rs374912661 0.5659 None gnomAD-3.1.2 6.57E-06
8472 17 S/T 26 rs374912661 0.5659 None gnomAD-4.0.0 2.23117E-05
8473 18 G/S 28 rs769092741 0.2209 None gnomAD-2.1.1 4.02E-06
8473 18 G/S 28 rs769092741 0.2209 None gnomAD-4.0.0 7.95902E-06
8474 19 T/S 29 None 0.3978 None gnomAD-4.0.0 1.5918E-06
8475 20 F/I 30 rs772111560 0.1307 None gnomAD-4.0.0 1.1633E-05
8476 21 K/T 31 None 0.5305 None gnomAD-4.0.0 1.20032E-06
8478 23 H/Q 34 None 0.2475 None gnomAD-4.0.0 6.84279E-07
8478 23 H/R 34 rs747367057 0.2475 None gnomAD-2.1.1 4.02E-06
8478 23 H/R 34 rs747367057 0.2475 None gnomAD-4.0.0 1.59165E-06
8479 24 V/I 35 rs990182590 0.1197 None gnomAD-3.1.2 1.97E-05
8479 24 V/I 35 rs990182590 0.1197 None gnomAD-4.0.0 1.97148E-05
8483 28 A/T 42 rs1156463241 0.6140 None gnomAD-2.1.1 3.18E-05
8483 28 A/T 42 rs1156463241 0.6140 None gnomAD-3.1.2 6.57E-06
8483 28 A/T 42 rs1156463241 0.6140 None gnomAD-4.0.0 3.09871E-06
8484 29 P/Q 43 None 0.7335 None gnomAD-4.0.0 4.77487E-06
8485 30 I/L 44 None 0.2581 None gnomAD-4.0.0 1.20032E-06
8485 30 I/V 44 rs1560628327 0.2581 None gnomAD-3.1.2 6.57E-06
8485 30 I/V 44 rs1560628327 0.2581 None gnomAD-4.0.0 1.3194E-05
8487 32 I/V 46 rs1368912492 0.2550 None gnomAD-4.0.0 4.80129E-06
8489 34 W/C 48 None 0.1532 None gnomAD-4.0.0 2.40064E-06
8489 34 W/R 48 rs1478462166 0.1532 None gnomAD-2.1.1 4.02E-06
8490 35 A/S 49 None 0.1117 None gnomAD-4.0.0 3.42136E-06
8490 35 A/T 49 rs1411592951 0.1117 None gnomAD-2.1.1 4.02E-06
8490 35 A/T 49 rs1411592951 0.1117 None gnomAD-4.0.0 1.36854E-06
8491 36 K/R 50 None 0.1203 None gnomAD-4.0.0 1.20032E-06
8492 37 D/A 51 None 0.4198 None gnomAD-4.0.0 6.84268E-07
8492 37 D/E 51 rs777349143 0.4198 None gnomAD-2.1.1 4.02E-06
8492 37 D/E 51 rs777349143 0.4198 None gnomAD-3.1.2 1.31E-05
8492 37 D/E 51 rs777349143 0.4198 None gnomAD-4.0.0 5.57758E-06
8492 37 D/G 51 None 0.4198 None gnomAD-4.0.0 6.84268E-07
8492 37 D/N 51 rs770655555 0.4198 None gnomAD-2.1.1 4.02E-06
8492 37 D/N 51 rs770655555 0.4198 None gnomAD-4.0.0 1.36854E-06
8492 37 D/Y 51 rs770655555 0.4198 None gnomAD-3.1.2 6.57E-06
8492 37 D/Y 51 rs770655555 0.4198 None gnomAD-4.0.0 6.57073E-06
8493 38 N/I 52 None 1.0032 None gnomAD-4.0.0 1.20032E-06
8493 38 N/K 52 None 1.0032 None gnomAD-4.0.0 1.5916E-06
8494 39 R/Q 55 rs201418615 0.7841 None gnomAD-2.1.1 2.03323E-04
8494 39 R/Q 55 rs201418615 0.7841 None gnomAD-3.1.2 5.38921E-04
8494 39 R/Q 55 rs201418615 0.7841 None 1000 genomes 7.98722E-04
8494 39 R/Q 55 rs201418615 0.7841 None gnomAD-4.0.0 1.13405E-04
8495 40 E/G 56 rs747674081 0.7535 None gnomAD-2.1.1 4.02E-06
8495 40 E/G 56 rs747674081 0.7535 None gnomAD-3.1.2 6.57E-06
8495 40 E/G 56 rs747674081 0.7535 None gnomAD-4.0.0 6.5703E-06
8495 40 E/V 56 rs747674081 0.7535 None gnomAD-2.1.1 1.61E-05
8495 40 E/V 56 rs747674081 0.7535 None gnomAD-4.0.0 6.36626E-06
8496 41 I/M 58 rs1220776486 0.1354 None gnomAD-2.1.1 8.03E-06
8496 41 I/M 58 rs1220776486 0.1354 None gnomAD-4.0.0 4.77479E-06
8496 41 I/T 58 rs781171748 0.1354 None gnomAD-2.1.1 4.02E-06
8496 41 I/T 58 rs781171748 0.1354 None gnomAD-4.0.0 1.59158E-06
8496 41 I/V 58 None 0.1354 None gnomAD-4.0.0 1.36853E-06
8497 42 R/C 59 rs369517119 0.8978 None gnomAD-2.1.1 3.21E-05
8497 42 R/C 59 rs369517119 0.8978 None gnomAD-3.1.2 6.57E-06
8497 42 R/C 59 rs369517119 0.8978 None gnomAD-4.0.0 1.11553E-05
8497 42 R/H 59 rs149855485 0.8978 None gnomAD-2.1.1 3.44631E-03
8497 42 R/H 59 rs149855485 0.8978 None gnomAD-3.1.2 1.76827E-03
8497 42 R/H 59 rs149855485 0.8978 None 1000 genomes 5.99042E-03
8497 42 R/H 59 rs149855485 0.8978 None gnomAD-4.0.0 2.20866E-03
8497 42 R/S 59 rs369517119 0.8978 None gnomAD-4.0.0 6.84274E-07
8498 43 P/A 70 rs1225974862 0.7825 None gnomAD-2.1.1 7.13E-06
8498 43 P/A 70 rs1225974862 0.7825 None gnomAD-3.1.2 1.31E-05
8498 43 P/A 70 rs1225974862 0.7825 None gnomAD-4.0.0 2.47906E-06
8500 45 G/D 111 None 0.6279 None gnomAD-4.0.0 1.36857E-06
8500 45 G/S 111 rs779848708 0.6279 None gnomAD-2.1.1 4.02E-06
8500 45 G/S 111 rs779848708 0.6279 None gnomAD-3.1.2 6.57E-06
8500 45 G/S 111 rs779848708 0.6279 None gnomAD-4.0.0 2.56258E-06
8501 46 N/K 115 rs758559820 0.2451 None gnomAD-2.1.1 8.03E-06
8501 46 N/K 115 rs758559820 0.2451 None gnomAD-4.0.0 5.47423E-06
8503 48 K/E 122 rs1336555903 0.6697 None gnomAD-2.1.1 4.02E-06
8503 48 K/E 122 rs1336555903 0.6697 None gnomAD-4.0.0 1.59166E-06
8503 48 K/R 122 rs765512040 0.6697 None gnomAD-2.1.1 1.61E-05
8503 48 K/R 122 rs765512040 0.6697 None gnomAD-4.0.0 5.47424E-06
8503 48 K/T 122 rs765512040 0.6697 None gnomAD-2.1.1 4.02E-06
8503 48 K/T 122 rs765512040 0.6697 None gnomAD-4.0.0 6.8428E-07
8504 49 M/K 123 None 0.2927 None gnomAD-4.0.0 1.59164E-06
8504 49 M/L 123 rs761929830 0.2927 None gnomAD-2.1.1 1.61E-05
8504 49 M/L 123 rs761929830 0.2927 None gnomAD-3.1.2 1.97E-05
8504 49 M/L 123 rs761929830 0.2927 None gnomAD-4.0.0 1.02505E-05
8504 49 M/V 123 rs761929830 0.2927 None gnomAD-4.0.0 2.56224E-06
8505 50 T/A 125 rs1361103429 0.4152 None gnomAD-3.1.2 6.57E-06
8505 50 T/A 125 rs1361103429 0.4152 None gnomAD-4.0.0 1.23949E-06
8505 50 T/S 125 None 0.4152 None gnomAD-4.0.0 6.84279E-07
8506 51 L/F 127 rs748617903 0.4534 None gnomAD-4.0.0 2.40064E-06
8506 51 L/V 127 None 0.4534 None gnomAD-4.0.0 1.20032E-06
8507 52 V/I 130 None 0.6184 None gnomAD-4.0.0 1.20032E-06
8508 53 E/D 131 None 0.8376 None gnomAD-4.0.0 1.20032E-06
8508 53 E/G 131 rs2154298886 0.8376 None gnomAD-3.1.2 6.57E-06
8508 53 E/G 131 rs2154298886 0.8376 None gnomAD-4.0.0 2.5623E-06
8509 54 N/D 134 None 0.3822 None gnomAD-4.0.0 1.59167E-06
8510 55 T/A 135 None 0.1910 None gnomAD-4.0.0 2.40064E-06
8510 55 T/I 135 None 0.1910 None gnomAD-4.0.0 1.20032E-06
8510 55 T/P 135 rs576038518 0.1910 None 1000 genomes 2.8754E-02
8510 55 T/P 135 rs576038518 0.1910 None gnomAD-4.0.0 1.20032E-06
8512 57 T/I 137 rs764620561 0.2198 None gnomAD-2.1.1 7.14E-06
8512 57 T/I 137 rs764620561 0.2198 None gnomAD-3.1.2 6.57E-06
8512 57 T/I 137 rs764620561 0.2198 None gnomAD-4.0.0 3.71849E-06
8513 58 L/P 138 None 0.0716 None gnomAD-4.0.0 1.59169E-06
8516 61 L/F 141 rs775937094 0.4223 None gnomAD-3.1.2 1.31E-05
8516 61 L/F 141 rs775937094 0.4223 None gnomAD-4.0.0 4.95814E-06
8516 61 L/V 141 rs775937094 0.4223 None gnomAD-4.0.0 4.1058E-06
8517 62 K/E 143 None 0.6651 None gnomAD-4.0.0 1.59173E-06
8518 63 V/L 144 None 0.1551 None gnomAD-4.0.0 1.20032E-06
8519 64 G/D 145 None 0.2860 None gnomAD-4.0.0 3.4215E-06
8519 64 G/S 145 rs760041371 0.2860 None gnomAD-2.1.1 1.61E-05
8519 64 G/S 145 rs760041371 0.2860 None gnomAD-4.0.0 8.2116E-06
8519 64 G/V 145 None 0.2860 None gnomAD-4.0.0 6.84301E-07
8522 67 D/N 149 rs199619070 0.2615 None gnomAD-2.1.1 9.64E-05
8522 67 D/N 149 rs199619070 0.2615 None gnomAD-3.1.2 1.31423E-04
8522 67 D/N 149 rs199619070 0.2615 None 1000 genomes 1.99681E-04
8522 67 D/N 149 rs199619070 0.2615 None gnomAD-4.0.0 1.61129E-04
8523 68 A/T 151 rs1288397933 0.3359 None gnomAD-2.1.1 4.02E-06
8523 68 A/T 151 rs1288397933 0.3359 None gnomAD-4.0.0 1.23177E-05
8523 68 A/V 151 rs1227310783 0.3359 None gnomAD-2.1.1 4.02E-06
8523 68 A/V 151 rs1227310783 0.3359 None gnomAD-3.1.2 1.31E-05
8523 68 A/V 151 rs1227310783 0.3359 None gnomAD-4.0.0 3.09892E-06
8524 69 G/R 152 rs371512914 0.1642 None gnomAD-2.1.1 6.07E-05
8524 69 G/R 152 rs371512914 0.1642 None gnomAD-3.1.2 9.86E-05
8524 69 G/R 152 rs371512914 0.1642 None gnomAD-4.0.0 6.63184E-05
8525 70 Q/L 153 None 0.5206 None gnomAD-4.0.0 2.05295E-06
8525 70 Q/P 153 rs2077609752 0.5206 None gnomAD-3.1.2 6.57E-06
8525 70 Q/P 153 rs2077609752 0.5206 None gnomAD-4.0.0 6.57013E-06
8527 72 T/I 155 rs1560626573 0.1800 None gnomAD-2.1.1 4.02E-06
8527 72 T/I 155 rs1560626573 0.1800 None gnomAD-4.0.0 2.7373E-06
8528 73 C/Y 156 rs1364963458 0.0576 None gnomAD-2.1.1 4.02E-06
8528 73 C/Y 156 rs1364963458 0.0576 None gnomAD-4.0.0 4.10599E-06
8529 74 Y/C 157 None 0.4462 None gnomAD-4.0.0 1.59197E-06
8530 75 A/E 158 rs2077607600 0.1335 None gnomAD-3.1.2 6.57E-06
8530 75 A/E 158 rs2077607600 0.1335 None gnomAD-4.0.0 6.57142E-06
8532 77 N/S 161 rs368106359 0.1923 None gnomAD-2.1.1 1.21E-05
8532 77 N/S 161 rs368106359 0.1923 None gnomAD-3.1.2 6.57E-06
8532 77 N/S 161 rs368106359 0.1923 None gnomAD-4.0.0 8.05777E-06
8533 78 I/F 162 None 0.9540 None gnomAD-4.0.0 1.36878E-06
8533 78 I/N 162 None 0.9540 None gnomAD-4.0.0 1.20032E-06
8533 78 I/V 162 rs367921306 0.9540 None gnomAD-2.1.1 2.82E-05
8533 78 I/V 162 rs367921306 0.9540 None gnomAD-3.1.2 1.97E-05
8533 78 I/V 162 rs367921306 0.9540 None 1000 genomes 3.99361E-04
8533 78 I/V 162 rs367921306 0.9540 None gnomAD-4.0.0 1.23959E-05
8534 79 A/S 163 rs779163897 0.6412 None gnomAD-2.1.1 2.82E-05
8534 79 A/S 163 rs779163897 0.6412 None gnomAD-3.1.2 6.57E-06
8534 79 A/S 163 rs779163897 0.6412 None gnomAD-4.0.0 1.73567E-05
8534 79 A/T 163 rs779163897 0.6412 None gnomAD-2.1.1 4.03E-06
8534 79 A/T 163 rs779163897 0.6412 None gnomAD-3.1.2 6.57E-06
8534 79 A/T 163 rs779163897 0.6412 None gnomAD-4.0.0 2.29356E-05
8535 80 G/R 164 None 0.2909 None gnomAD-4.0.0 1.59257E-06
8537 82 D/E 166 None 0.2806 None gnomAD-4.0.0 1.36895E-06
8537 82 D/N 166 rs2077605401 0.2806 None gnomAD-4.0.0 1.20032E-06
8538 83 S/A 168 None 0.3442 None gnomAD-4.0.0 1.20032E-06
8538 83 S/F 168 rs375170912 0.3442 None gnomAD-2.1.1 2.15E-05
8538 83 S/F 168 rs375170912 0.3442 None gnomAD-3.1.2 7.23E-05
8538 83 S/F 168 rs375170912 0.3442 None gnomAD-4.0.0 9.29889E-06
8539 84 C/F 169 rs550882549 0.1265 None gnomAD-2.1.1 2.21785E-04
8539 84 C/F 169 rs550882549 0.1265 None gnomAD-3.1.2 6.57E-05
8539 84 C/F 169 rs550882549 0.1265 None 1000 genomes 1.99681E-04
8539 84 C/F 169 rs550882549 0.1265 None gnomAD-4.0.0 1.20885E-04
8539 84 C/Y 169 rs550882549 0.1265 None gnomAD-2.1.1 4.03E-06
8539 84 C/Y 169 rs550882549 0.1265 None gnomAD-4.0.0 2.05364E-06
8540 85 S/A 171 rs77120780 0.3751 None gnomAD-2.1.1 4.03E-06
8540 85 S/A 171 rs77120780 0.3751 None gnomAD-4.0.0 1.59295E-06
8540 85 S/F 171 rs201523784 0.3751 None gnomAD-2.1.1 5.36569E-04
8540 85 S/F 171 rs201523784 0.3751 None gnomAD-3.1.2 4.27148E-04
8540 85 S/F 171 rs201523784 0.3751 None 1000 genomes 1.99681E-04
8540 85 S/F 171 rs201523784 0.3751 None gnomAD-4.0.0 6.03203E-04
8540 85 S/Y 171 None 0.3751 None gnomAD-4.0.0 6.84575E-07
8541 86 A/V 172 None 0.1204 None gnomAD-4.0.0 1.59535E-06
8542 87 Q/H 173 rs2562832 0.3131 None gnomAD-2.1.1 3.8209E-02
8542 87 Q/H 173 rs2562832 0.3131 None gnomAD-3.1.2 2.59822E-02
8542 87 Q/H 173 rs2562832 0.3131 None 1000 genomes 5.13179E-02
8542 87 Q/H 173 rs2562832 0.3131 None gnomAD-4.0.0 2.73129E-02
8542 87 Q/P 173 None 0.3131 None gnomAD-4.0.0 1.20032E-06
8543 88 L/P 174 None 0.1612 None gnomAD-4.0.0 1.20032E-06
8544 89 G/A 175 rs2077603060 0.2383 None gnomAD-4.0.0 1.3717E-06
8544 89 G/D 175 None 0.2383 None gnomAD-4.0.0 2.7434E-06
8545 90 V/A 177 None 0.4565 None gnomAD-4.0.0 1.37188E-06
8545 90 V/E 177 rs1313924560 0.4565 None gnomAD-3.1.2 6.57E-06
8545 90 V/E 177 rs1313924560 0.4565 None gnomAD-4.0.0 6.5716E-06
8545 90 V/I 177 rs1246177699 0.4565 None gnomAD-3.1.2 6.57E-06
8545 90 V/I 177 rs1246177699 0.4565 None gnomAD-4.0.0 3.86256E-06