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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7515 1 P/R 1 None 0.2170 None gnomAD-4.0.0 2.40065E-06
7516 2 F/S 2 rs2078474988 0.3877 None gnomAD-3.1.2 6.57E-06
7516 2 F/S 2 rs2078474988 0.3877 None gnomAD-4.0.0 6.57194E-06
7518 4 D/E 4 None 0.3193 None gnomAD-4.0.0 1.69609E-06
7518 4 D/V 4 rs749008105 0.3193 None gnomAD-2.1.1 1.85E-05
7518 4 D/V 4 rs749008105 0.3193 None gnomAD-3.1.2 6.57E-06
7518 4 D/V 4 rs749008105 0.3193 None gnomAD-4.0.0 1.08031E-05
7519 5 I/F 5 rs146608139 0.4794 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4794 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4794 None gnomAD-3.1.2 1.31E-05
7519 5 I/L 5 rs146608139 0.4794 None 1000 genomes 3.99361E-04
7519 5 I/L 5 rs146608139 0.4794 None gnomAD-4.0.0 4.43996E-06
7520 6 K/N 7 None 0.5081 None gnomAD-4.0.0 7.00172E-07
7520 6 K/T 7 None 0.5081 None gnomAD-4.0.0 1.20032E-06
7521 7 P/A 8 rs752570029 0.1987 None gnomAD-4.0.0 6.99683E-07
7521 7 P/L 8 None 0.1987 None gnomAD-4.0.0 6.99264E-07
7521 7 P/S 8 rs752570029 0.1987 None gnomAD-2.1.1 4.44E-06
7521 7 P/T 8 None 0.1987 None gnomAD-4.0.0 6.99684E-07
7522 8 V/G 9 rs1387361909 0.7649 None gnomAD-2.1.1 3.18E-05
7522 8 V/G 9 rs1387361909 0.7649 None gnomAD-3.1.2 6.57E-06
7522 8 V/G 9 rs1387361909 0.7649 None gnomAD-4.0.0 3.75455E-06
7522 8 V/L 9 None 0.7649 None gnomAD-4.0.0 2.07638E-06
7524 10 I/T 13 None 0.2366 None gnomAD-4.0.0 1.61251E-06
7524 10 I/V 13 None 0.2366 None gnomAD-4.0.0 3.22771E-06
7525 11 D/E 14 rs200061856 0.5412 None gnomAD-2.1.1 6.58E-05
7525 11 D/E 14 rs200061856 0.5412 None gnomAD-3.1.2 4.6E-05
7525 11 D/E 14 rs200061856 0.5412 None gnomAD-4.0.0 3.29919E-05
7525 11 D/H 14 None 0.5412 None gnomAD-4.0.0 2.06407E-06
7526 12 V/D 16 None 0.1885 None gnomAD-4.0.0 1.60858E-06
7526 12 V/F 16 rs754972548 0.1885 None gnomAD-2.1.1 4.1E-05
7526 12 V/F 16 rs754972548 0.1885 None gnomAD-3.1.2 5.91E-05
7526 12 V/F 16 rs754972548 0.1885 None gnomAD-4.0.0 7.90152E-05
7529 15 G/V 24 rs1194135723 0.3275 None gnomAD-4.0.0 1.59981E-06
7531 17 S/C 26 None 0.3551 None gnomAD-4.0.0 1.59752E-06
7531 17 S/I 26 None 0.3551 None gnomAD-4.0.0 6.85399E-07
7531 17 S/N 26 rs267599060 0.3551 None gnomAD-2.1.1 2.16E-05
7531 17 S/N 26 rs267599060 0.3551 None gnomAD-3.1.2 7.89E-05
7531 17 S/N 26 rs267599060 0.3551 None gnomAD-4.0.0 1.73786E-05
7533 19 D/N 29 rs371762361 0.3187 None gnomAD-2.1.1 4.05E-06
7533 19 D/N 29 rs371762361 0.3187 None gnomAD-3.1.2 6.57E-06
7533 19 D/N 29 rs371762361 0.3187 None gnomAD-4.0.0 6.57151E-06
7534 20 F/C 30 None 0.1188 None gnomAD-4.0.0 6.84951E-07
7534 20 F/Y 30 rs551521928 0.1188 None gnomAD-2.1.1 8.49E-05
7534 20 F/Y 30 rs551521928 0.1188 None gnomAD-3.1.2 1.97E-05
7534 20 F/Y 30 rs551521928 0.1188 None 1000 genomes 3.99361E-04
7534 20 F/Y 30 rs551521928 0.1188 None gnomAD-4.0.0 2.29491E-05
7535 21 E/G 31 rs773956492 0.5281 None gnomAD-4.0.0 6.00161E-06
7539 25 T/N 38 rs879209114 0.3811 None gnomAD-4.0.0 1.20032E-06
7541 27 A/P 41 rs2078459574 0.5191 None gnomAD-4.0.0 1.30054E-05
7542 28 Q/P 42 None 0.5093 None gnomAD-4.0.0 1.59226E-06
7543 29 P/L 43 rs560272834 0.7798 None gnomAD-2.1.1 1.04575E-04
7543 29 P/L 43 rs560272834 0.7798 None gnomAD-3.1.2 2.63E-05
7543 29 P/L 43 rs560272834 0.7798 None gnomAD-4.0.0 3.65695E-05
7543 29 P/Q 43 None 0.7798 None gnomAD-4.0.0 6.84406E-07
7543 29 P/T 43 None 0.7798 None gnomAD-4.0.0 2.7376E-06
7544 30 M/K 44 None 0.1987 None gnomAD-4.0.0 1.36872E-06
7544 30 M/L 44 rs2078457617 0.1987 None gnomAD-3.1.2 2.63E-05
7544 30 M/L 44 rs2078457617 0.1987 None gnomAD-4.0.0 3.71886E-06
7544 30 M/T 44 rs1234192175 0.1987 None gnomAD-4.0.0 6.8436E-07
7545 31 R/Q 45 rs72648969 0.7353 None gnomAD-2.1.1 2.11743E-03
7545 31 R/Q 45 rs72648969 0.7353 None gnomAD-3.1.2 1.90634E-03
7545 31 R/Q 45 rs72648969 0.7353 None 1000 genomes 1.99681E-04
7545 31 R/Q 45 rs72648969 0.7353 None gnomAD-4.0.0 3.03338E-03
7547 33 T/S 47 rs1437517914 0.4002 None gnomAD-2.1.1 4.02E-06
7547 33 T/S 47 rs1437517914 0.4002 None gnomAD-3.1.2 6.57E-06
7547 33 T/S 47 rs1437517914 0.4002 None gnomAD-4.0.0 2.56298E-06
7548 34 W/C 48 rs775685171 0.1406 None gnomAD-2.1.1 4.02E-06
7548 34 W/L 48 None 0.1406 None gnomAD-4.0.0 6.84417E-07
7550 36 K/N 50 rs1460815999 0.1155 None gnomAD-2.1.1 3.19E-05
7550 36 K/N 50 rs1460815999 0.1155 None gnomAD-3.1.2 6.57E-06
7550 36 K/N 50 rs1460815999 0.1155 None gnomAD-4.0.0 4.33862E-06
7550 36 K/Q 50 rs772516390 0.1155 None gnomAD-2.1.1 4.02E-06
7551 37 D/E 51 rs371736246 0.4239 None gnomAD-2.1.1 2.01E-05
7551 37 D/E 51 rs371736246 0.4239 None gnomAD-3.1.2 6.57E-06
7551 37 D/E 51 rs371736246 0.4239 None gnomAD-4.0.0 9.91682E-06
7551 37 D/V 51 None 0.4239 None gnomAD-4.0.0 1.20032E-06
7551 37 D/Y 51 None 0.4239 None gnomAD-4.0.0 1.59202E-06
7552 38 N/D 52 rs1171381654 0.9618 None gnomAD-2.1.1 4.02E-06
7552 38 N/D 52 rs1171381654 0.9618 None gnomAD-4.0.0 1.59195E-06
7554 40 E/D 56 rs879075975 0.5533 None gnomAD-4.0.0 1.36866E-06
7555 41 I/L 58 None 0.1337 None gnomAD-4.0.0 1.59188E-06
7555 41 I/V 58 rs747649130 0.1337 None gnomAD-2.1.1 4.02E-06
7555 41 I/V 58 rs747649130 0.1337 None gnomAD-3.1.2 6.57E-06
7555 41 I/V 58 rs747649130 0.1337 None gnomAD-4.0.0 6.57212E-06
7556 42 R/C 59 rs754885396 0.6971 None gnomAD-2.1.1 8.93E-05
7556 42 R/C 59 rs754885396 0.6971 None gnomAD-3.1.2 5.26E-05
7556 42 R/C 59 rs754885396 0.6971 None gnomAD-4.0.0 2.5413E-05
7556 42 R/G 59 None 0.6971 None gnomAD-4.0.0 6.84332E-07
7556 42 R/H 59 rs374344734 0.6971 None gnomAD-2.1.1 9.63E-05
7556 42 R/H 59 rs374344734 0.6971 None gnomAD-3.1.2 9.2E-05
7556 42 R/H 59 rs374344734 0.6971 None gnomAD-4.0.0 6.50793E-05
7556 42 R/L 59 rs374344734 0.6971 None gnomAD-2.1.1 4.02E-06
7556 42 R/L 59 rs374344734 0.6971 None gnomAD-4.0.0 1.36865E-06
7556 42 R/S 59 rs754885396 0.6971 None gnomAD-2.1.1 8.04E-06
7556 42 R/S 59 rs754885396 0.6971 None gnomAD-4.0.0 2.05299E-06
7557 43 P/T 70 rs758231381 0.6446 None gnomAD-2.1.1 8.04E-06
7557 43 P/T 70 rs758231381 0.6446 None gnomAD-4.0.0 6.36752E-06
7558 44 G/R 73 None 0.4297 None gnomAD-4.0.0 1.20032E-06
7558 44 G/V 73 rs886055294 0.4297 None gnomAD-2.1.1 8.04E-06
7558 44 G/V 73 rs886055294 0.4297 None gnomAD-4.0.0 2.73727E-06
7559 45 G/E 111 rs2078443515 0.6900 None gnomAD-4.0.0 1.59178E-06
7560 46 N/D 115 None 0.2341 None gnomAD-4.0.0 1.59173E-06
7561 47 Y/C 121 rs786205544 0.2714 None gnomAD-3.1.2 6.57E-06
7561 47 Y/C 121 rs786205544 0.2714 None gnomAD-4.0.0 2.47909E-06
7561 47 Y/H 121 None 0.2714 None gnomAD-4.0.0 1.71075E-05
7562 48 T/I 122 rs1553909660 0.4723 None gnomAD-3.1.2 1.31E-05
7562 48 T/I 122 rs1553909660 0.4723 None gnomAD-4.0.0 1.31439E-05
7562 48 T/R 122 None 0.4723 None gnomAD-4.0.0 1.5918E-06
7563 49 I/F 123 rs1321824189 0.2531 None gnomAD-2.1.1 4.02E-06
7563 49 I/F 123 rs1321824189 0.2531 None gnomAD-3.1.2 6.57E-06
7563 49 I/F 123 rs1321824189 0.2531 None gnomAD-4.0.0 1.36352E-05
7563 49 I/M 123 rs1060500529 0.2531 None gnomAD-3.1.2 1.97E-05
7563 49 I/M 123 rs1060500529 0.2531 None gnomAD-4.0.0 1.97226E-05
7563 49 I/N 123 None 0.2531 None gnomAD-4.0.0 1.20032E-06
7563 49 I/V 123 None 0.2531 None gnomAD-4.0.0 6.84302E-07
7565 51 C/F 127 rs753947699 0.3176 None gnomAD-4.0.0 6.84313E-07
7565 51 C/R 127 rs757611239 0.3176 None gnomAD-4.0.0 3.42152E-06
7565 51 C/S 127 rs757611239 0.3176 None gnomAD-2.1.1 4.02E-06
7565 51 C/S 127 rs757611239 0.3176 None gnomAD-4.0.0 6.84303E-07
7565 51 C/Y 127 None 0.3176 None gnomAD-4.0.0 6.84313E-07
7567 53 G/A 131 rs764311341 0.4915 None gnomAD-4.0.0 6.84327E-07
7567 53 G/E 131 rs764311341 0.4915 None gnomAD-4.0.0 1.36865E-06
7569 55 T/I 135 rs1198203479 0.2320 None gnomAD-2.1.1 3.19E-05
7569 55 T/I 135 rs1198203479 0.2320 None gnomAD-3.1.2 6.57E-06
7569 55 T/I 135 rs1198203479 0.2320 None gnomAD-4.0.0 6.57237E-06
7570 56 P/A 136 None 0.1258 None gnomAD-4.0.0 6.84332E-07
7570 56 P/H 136 rs1444461312 0.1258 None gnomAD-2.1.1 4.02E-06
7570 56 P/H 136 rs1444461312 0.1258 None gnomAD-4.0.0 1.59191E-06
7570 56 P/T 136 None 0.1258 None gnomAD-4.0.0 6.84332E-07
7571 57 H/P 137 rs776085388 0.2382 None gnomAD-2.1.1 4.02E-06
7571 57 H/P 137 rs776085388 0.2382 None gnomAD-4.0.0 1.59188E-06
7571 57 H/Y 137 rs1483207603 0.2382 None gnomAD-2.1.1 3.19E-05
7571 57 H/Y 137 rs1483207603 0.2382 None gnomAD-3.1.2 6.57E-06
7571 57 H/Y 137 rs1483207603 0.2382 None gnomAD-4.0.0 6.5722E-06
7572 58 L/S 138 rs759949024 0.0715 None gnomAD-2.1.1 4.02E-06
7572 58 L/S 138 rs759949024 0.0715 None gnomAD-4.0.0 6.84338E-07
7572 58 L/V 138 None 0.0715 None gnomAD-4.0.0 6.84317E-07
7573 59 R/S 139 None 0.3741 None gnomAD-4.0.0 6.84324E-07
7574 60 I/V 140 rs1017841481 0.0783 None gnomAD-2.1.1 3.19E-05
7574 60 I/V 140 rs1017841481 0.0783 None gnomAD-3.1.2 1.97E-05
7574 60 I/V 140 rs1017841481 0.0783 None gnomAD-4.0.0 4.05965E-06
7575 61 L/P 141 None 0.4538 None gnomAD-4.0.0 1.20032E-06
7575 61 L/V 141 rs774759859 0.4538 None gnomAD-2.1.1 1.43E-05
7575 61 L/V 141 rs774759859 0.4538 None gnomAD-3.1.2 1.97E-05
7575 61 L/V 141 rs774759859 0.4538 None gnomAD-4.0.0 7.68898E-06
7576 62 K/I 143 None 0.6519 None gnomAD-4.0.0 6.84323E-07
7578 64 G/R 145 rs775145999 0.2503 None gnomAD-2.1.1 1.21E-05
7578 64 G/R 145 rs775145999 0.2503 None gnomAD-4.0.0 1.77926E-05
7579 65 K/N 146 None 0.9743 None gnomAD-4.0.0 1.20032E-06
7579 65 K/R 146 rs2078428721 0.9743 None gnomAD-4.0.0 1.59185E-06
7580 66 G/R 148 rs1215151938 0.4259 None gnomAD-3.1.2 6.57E-06
7580 66 G/R 148 rs1215151938 0.4259 None gnomAD-4.0.0 2.02989E-06
7581 67 D/E 149 rs540314973 0.1701 None gnomAD-2.1.1 1.21E-05
7581 67 D/E 149 rs540314973 0.1701 None gnomAD-3.1.2 1.31E-05
7581 67 D/E 149 rs540314973 0.1701 None 1000 genomes 1.99681E-04
7581 67 D/E 149 rs540314973 0.1701 None gnomAD-4.0.0 5.12558E-06
7581 67 D/N 149 rs1433348204 0.1701 None gnomAD-2.1.1 4.02E-06
7581 67 D/N 149 rs1433348204 0.1701 None gnomAD-3.1.2 6.57E-06
7581 67 D/N 149 rs1433348204 0.1701 None gnomAD-4.0.0 1.23963E-06
7581 67 D/V 149 None 0.1701 None gnomAD-4.0.0 1.59201E-06
7581 67 D/Y 149 rs1433348204 0.1701 None gnomAD-3.1.2 6.57E-06
7581 67 D/Y 149 rs1433348204 0.1701 None gnomAD-4.0.0 6.81795E-06
7582 68 S/C 151 rs768179623 0.2990 None gnomAD-2.1.1 2.41E-05
7582 68 S/C 151 rs768179623 0.2990 None gnomAD-4.0.0 1.02655E-05
7584 70 Q/L 153 rs530109283 0.4859 None gnomAD-3.1.2 6.57E-06
7584 70 Q/L 153 rs530109283 0.4859 None 1000 genomes 1.99681E-04
7584 70 Q/L 153 rs530109283 0.4859 None gnomAD-4.0.0 6.5653E-06
7584 70 Q/R 153 rs530109283 0.4859 None gnomAD-3.1.2 6.57E-06
7584 70 Q/R 153 rs530109283 0.4859 None gnomAD-4.0.0 2.02982E-06
7585 71 Y/C 154 None 0.0963 None gnomAD-4.0.0 1.20032E-06
7586 72 T/I 155 None 0.1857 None gnomAD-4.0.0 2.40064E-06
7589 75 A/V 158 None 0.0995 None gnomAD-4.0.0 1.5928E-06
7590 76 T/A 159 None 0.2982 None gnomAD-4.0.0 1.20032E-06
7590 76 T/N 159 rs1486219064 0.2982 None gnomAD-3.1.2 6.57E-06
7590 76 T/N 159 rs1486219064 0.2982 None gnomAD-4.0.0 6.57142E-06
7591 77 N/S 161 rs368750726 0.1742 None gnomAD-2.1.1 8.06E-06
7591 77 N/S 161 rs368750726 0.1742 None gnomAD-3.1.2 1.97E-05
7591 77 N/S 161 rs368750726 0.1742 None gnomAD-4.0.0 1.2399E-05
7591 77 N/T 161 rs368750726 0.1742 None gnomAD-2.1.1 4.03E-06
7592 78 D/E 162 None 0.8133 None gnomAD-4.0.0 6.84583E-07
7593 79 V/A 163 rs758335261 0.7913 None gnomAD-2.1.1 4.03E-06
7593 79 V/A 163 rs758335261 0.7913 None gnomAD-4.0.0 1.59349E-06
7594 80 G/D 164 None 0.2697 None gnomAD-4.0.0 1.59456E-06
7594 80 G/V 164 None 0.2697 None gnomAD-4.0.0 1.59456E-06
7595 81 K/Q 165 None 0.5973 None gnomAD-4.0.0 1.59404E-06
7595 81 K/R 165 rs2078423913 0.5973 None gnomAD-4.0.0 1.59412E-06
7596 82 D/E 166 None 0.2373 None gnomAD-4.0.0 1.59471E-06
7596 82 D/H 166 rs72648970 0.2373 None gnomAD-2.1.1 2.80405E-02
7596 82 D/H 166 rs72648970 0.2373 None gnomAD-3.1.2 2.43494E-02
7596 82 D/H 166 rs72648970 0.2373 None 1000 genomes 2.01677E-02
7596 82 D/H 166 rs72648970 0.2373 None gnomAD-4.0.0 3.37577E-02
7596 82 D/N 166 None 0.2373 None gnomAD-4.0.0 6.84868E-07
7596 82 D/Y 166 rs72648970 0.2373 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.3560 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.3560 None gnomAD-4.0.0 1.36975E-06
7597 83 M/L 168 None 0.3560 None gnomAD-4.0.0 1.20033E-06
7597 83 M/T 168 None 0.3560 None gnomAD-4.0.0 2.7395E-06
7598 84 C/S 169 rs1316768329 0.0976 None gnomAD-2.1.1 4.05E-06
7598 84 C/S 169 rs1316768329 0.0976 None gnomAD-4.0.0 1.59652E-06
7599 85 S/L 171 None 0.3604 None gnomAD-4.0.0 1.59696E-06
7599 85 S/P 171 None 0.3604 None gnomAD-4.0.0 1.5965E-06
7600 86 A/S 172 rs757523256 0.1091 None gnomAD-2.1.1 1.22E-05
7600 86 A/S 172 rs757523256 0.1091 None gnomAD-4.0.0 4.79971E-06
7600 86 A/T 172 None 0.1091 None gnomAD-4.0.0 1.5999E-06
7600 86 A/V 172 None 0.1091 None gnomAD-4.0.0 1.59886E-06
7601 87 Q/P 173 None 0.2594 None gnomAD-4.0.0 6.86339E-07
7602 88 L/F 174 rs754142672 0.0887 None gnomAD-2.1.1 4.08E-06
7602 88 L/F 174 rs754142672 0.0887 None gnomAD-4.0.0 3.21054E-06
7603 89 S/G 175 None 0.2741 None gnomAD-4.0.0 6.92636E-07
7603 89 S/I 175 rs777949804 0.2741 None gnomAD-2.1.1 4.19E-06
7603 89 S/I 175 rs777949804 0.2741 None gnomAD-4.0.0 4.85413E-06