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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 0.1819 None gnomAD-4.0.0 2.40065E-06
7516 2 F/S 2 rs2078474988 0.4939 None gnomAD-3.1.2 6.57E-06
7516 2 F/S 2 rs2078474988 0.4939 None gnomAD-4.0.0 6.57194E-06
7518 4 D/E 4 None 0.3406 None gnomAD-4.0.0 1.69609E-06
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-2.1.1 1.85E-05
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-3.1.2 6.57E-06
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-4.0.0 1.08031E-05
7519 5 I/F 5 rs146608139 0.4613 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-3.1.2 1.31E-05
7519 5 I/L 5 rs146608139 0.4613 None 1000 genomes 3.99361E-04
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-4.0.0 4.43996E-06
7520 6 K/N 7 None 0.5984 None gnomAD-4.0.0 7.00172E-07
7520 6 K/T 7 None 0.5984 None gnomAD-4.0.0 1.20032E-06
7521 7 P/A 8 rs752570029 0.1913 None gnomAD-4.0.0 6.99683E-07
7521 7 P/L 8 None 0.1913 None gnomAD-4.0.0 6.99264E-07
7521 7 P/S 8 rs752570029 0.1913 None gnomAD-2.1.1 4.44E-06
7521 7 P/T 8 None 0.1913 None gnomAD-4.0.0 6.99684E-07
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-2.1.1 3.18E-05
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-3.1.2 6.57E-06
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-4.0.0 3.75455E-06
7522 8 V/L 9 None 0.7558 None gnomAD-4.0.0 2.07638E-06
7524 10 I/T 13 None 0.2315 None gnomAD-4.0.0 1.61251E-06
7524 10 I/V 13 None 0.2315 None gnomAD-4.0.0 3.22771E-06
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-2.1.1 6.58E-05
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-3.1.2 4.6E-05
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-4.0.0 3.29919E-05
7525 11 D/H 14 None 0.5483 None gnomAD-4.0.0 2.06407E-06
7526 12 V/D 16 None 0.1796 None gnomAD-4.0.0 1.60858E-06
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-2.1.1 4.1E-05
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-3.1.2 5.91E-05
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-4.0.0 7.90152E-05
7529 15 G/V 24 rs1194135723 0.3393 None gnomAD-4.0.0 1.59981E-06
7531 17 S/C 26 None 0.3553 None gnomAD-4.0.0 1.59752E-06
7531 17 S/I 26 None 0.3553 None gnomAD-4.0.0 6.85399E-07
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-2.1.1 2.16E-05
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-3.1.2 7.89E-05
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-4.0.0 1.73786E-05
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-2.1.1 4.05E-06
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-3.1.2 6.57E-06
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-4.0.0 6.57151E-06
7534 20 F/C 30 None 0.1127 None gnomAD-4.0.0 6.84951E-07
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-2.1.1 8.49E-05
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-3.1.2 1.97E-05
7534 20 F/Y 30 rs551521928 0.1127 None 1000 genomes 3.99361E-04
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-4.0.0 2.29491E-05
7535 21 E/G 31 rs773956492 0.5229 None gnomAD-4.0.0 6.00161E-06
7539 25 T/N 38 rs879209114 0.3594 None gnomAD-4.0.0 1.20032E-06
7541 27 A/P 41 rs2078459574 0.4908 None gnomAD-4.0.0 1.30054E-05
7542 28 Q/P 42 None 0.5113 None gnomAD-4.0.0 1.59226E-06
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-2.1.1 1.04575E-04
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-3.1.2 2.63E-05
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-4.0.0 3.65695E-05
7543 29 P/Q 43 None 0.8153 None gnomAD-4.0.0 6.84406E-07
7543 29 P/T 43 None 0.8153 None gnomAD-4.0.0 2.7376E-06
7544 30 M/K 44 None 0.2018 None gnomAD-4.0.0 1.36872E-06
7544 30 M/L 44 rs2078457617 0.2018 None gnomAD-3.1.2 2.63E-05
7544 30 M/L 44 rs2078457617 0.2018 None gnomAD-4.0.0 3.71886E-06
7544 30 M/T 44 rs1234192175 0.2018 None gnomAD-4.0.0 6.8436E-07
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-2.1.1 2.11743E-03
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-3.1.2 1.90634E-03
7545 31 R/Q 45 rs72648969 0.7317 None 1000 genomes 1.99681E-04
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-4.0.0 3.03338E-03
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-2.1.1 4.02E-06
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-3.1.2 6.57E-06
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-4.0.0 2.56298E-06
7548 34 W/C 48 rs775685171 0.1401 None gnomAD-2.1.1 4.02E-06
7548 34 W/L 48 None 0.1401 None gnomAD-4.0.0 6.84417E-07
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-2.1.1 3.19E-05
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-3.1.2 6.57E-06
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-4.0.0 4.33862E-06
7550 36 K/Q 50 rs772516390 0.1259 None gnomAD-2.1.1 4.02E-06
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-2.1.1 2.01E-05
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-3.1.2 6.57E-06
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-4.0.0 9.91682E-06
7551 37 D/V 51 None 0.4247 None gnomAD-4.0.0 1.20032E-06
7551 37 D/Y 51 None 0.4247 None gnomAD-4.0.0 1.59202E-06
7552 38 N/D 52 rs1171381654 0.9569 None gnomAD-2.1.1 4.02E-06
7552 38 N/D 52 rs1171381654 0.9569 None gnomAD-4.0.0 1.59195E-06
7554 40 E/D 56 rs879075975 0.6636 None gnomAD-4.0.0 1.36866E-06
7555 41 I/L 58 None 0.1275 None gnomAD-4.0.0 1.59188E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-2.1.1 4.02E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-3.1.2 6.57E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-4.0.0 6.57212E-06
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-2.1.1 8.93E-05
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-3.1.2 5.26E-05
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-4.0.0 2.5413E-05
7556 42 R/G 59 None 0.8455 None gnomAD-4.0.0 6.84332E-07
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-2.1.1 9.63E-05
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-3.1.2 9.2E-05
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-4.0.0 6.50793E-05
7556 42 R/L 59 rs374344734 0.8455 None gnomAD-2.1.1 4.02E-06
7556 42 R/L 59 rs374344734 0.8455 None gnomAD-4.0.0 1.36865E-06
7556 42 R/S 59 rs754885396 0.8455 None gnomAD-2.1.1 8.04E-06
7556 42 R/S 59 rs754885396 0.8455 None gnomAD-4.0.0 2.05299E-06
7557 43 P/T 70 rs758231381 0.6511 None gnomAD-2.1.1 8.04E-06
7557 43 P/T 70 rs758231381 0.6511 None gnomAD-4.0.0 6.36752E-06
7558 44 G/R 73 None 0.4575 None gnomAD-4.0.0 1.20032E-06
7558 44 G/V 73 rs886055294 0.4575 None gnomAD-2.1.1 8.04E-06
7558 44 G/V 73 rs886055294 0.4575 None gnomAD-4.0.0 2.73727E-06
7559 45 G/E 111 rs2078443515 0.6874 None gnomAD-4.0.0 1.59178E-06
7560 46 N/D 115 None 0.2480 None gnomAD-4.0.0 1.59173E-06
7561 47 Y/C 121 rs786205544 0.2594 None gnomAD-3.1.2 6.57E-06
7561 47 Y/C 121 rs786205544 0.2594 None gnomAD-4.0.0 2.47909E-06
7561 47 Y/H 121 None 0.2594 None gnomAD-4.0.0 1.71075E-05
7562 48 T/I 122 rs1553909660 0.4427 None gnomAD-3.1.2 1.31E-05
7562 48 T/I 122 rs1553909660 0.4427 None gnomAD-4.0.0 1.31439E-05
7562 48 T/R 122 None 0.4427 None gnomAD-4.0.0 1.5918E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-2.1.1 4.02E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-3.1.2 6.57E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-4.0.0 1.36352E-05
7563 49 I/M 123 rs1060500529 0.2631 None gnomAD-3.1.2 1.97E-05
7563 49 I/M 123 rs1060500529 0.2631 None gnomAD-4.0.0 1.97226E-05
7563 49 I/N 123 None 0.2631 None gnomAD-4.0.0 1.20032E-06
7563 49 I/V 123 None 0.2631 None gnomAD-4.0.0 6.84302E-07
7565 51 C/F 127 rs753947699 0.3476 None gnomAD-4.0.0 6.84313E-07
7565 51 C/R 127 rs757611239 0.3476 None gnomAD-4.0.0 3.42152E-06
7565 51 C/S 127 rs757611239 0.3476 None gnomAD-2.1.1 4.02E-06
7565 51 C/S 127 rs757611239 0.3476 None gnomAD-4.0.0 6.84303E-07
7565 51 C/Y 127 None 0.3476 None gnomAD-4.0.0 6.84313E-07
7567 53 G/A 131 rs764311341 0.5021 None gnomAD-4.0.0 6.84327E-07
7567 53 G/E 131 rs764311341 0.5021 None gnomAD-4.0.0 1.36865E-06
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-2.1.1 3.19E-05
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-3.1.2 6.57E-06
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-4.0.0 6.57237E-06
7570 56 P/A 136 None 0.1298 None gnomAD-4.0.0 6.84332E-07
7570 56 P/H 136 rs1444461312 0.1298 None gnomAD-2.1.1 4.02E-06
7570 56 P/H 136 rs1444461312 0.1298 None gnomAD-4.0.0 1.59191E-06
7570 56 P/T 136 None 0.1298 None gnomAD-4.0.0 6.84332E-07
7571 57 H/P 137 rs776085388 0.2446 None gnomAD-2.1.1 4.02E-06
7571 57 H/P 137 rs776085388 0.2446 None gnomAD-4.0.0 1.59188E-06
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-2.1.1 3.19E-05
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-3.1.2 6.57E-06
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-4.0.0 6.5722E-06
7572 58 L/S 138 rs759949024 0.0676 None gnomAD-2.1.1 4.02E-06
7572 58 L/S 138 rs759949024 0.0676 None gnomAD-4.0.0 6.84338E-07
7572 58 L/V 138 None 0.0676 None gnomAD-4.0.0 6.84317E-07
7573 59 R/S 139 None 0.4009 None gnomAD-4.0.0 6.84324E-07
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-2.1.1 3.19E-05
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-3.1.2 1.97E-05
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-4.0.0 4.05965E-06
7575 61 L/P 141 None 0.4452 None gnomAD-4.0.0 1.20032E-06
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-2.1.1 1.43E-05
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-3.1.2 1.97E-05
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-4.0.0 7.68898E-06
7576 62 K/I 143 None 0.6938 None gnomAD-4.0.0 6.84323E-07
7578 64 G/R 145 rs775145999 0.2516 None gnomAD-2.1.1 1.21E-05
7578 64 G/R 145 rs775145999 0.2516 None gnomAD-4.0.0 1.77926E-05
7579 65 K/N 146 None 0.9932 None gnomAD-4.0.0 1.20032E-06
7579 65 K/R 146 rs2078428721 0.9932 None gnomAD-4.0.0 1.59185E-06
7580 66 G/R 148 rs1215151938 0.4278 None gnomAD-3.1.2 6.57E-06
7580 66 G/R 148 rs1215151938 0.4278 None gnomAD-4.0.0 2.02989E-06
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-2.1.1 1.21E-05
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-3.1.2 1.31E-05
7581 67 D/E 149 rs540314973 0.1843 None 1000 genomes 1.99681E-04
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-4.0.0 5.12558E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-2.1.1 4.02E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-3.1.2 6.57E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-4.0.0 1.23963E-06
7581 67 D/V 149 None 0.1843 None gnomAD-4.0.0 1.59201E-06
7581 67 D/Y 149 rs1433348204 0.1843 None gnomAD-3.1.2 6.57E-06
7581 67 D/Y 149 rs1433348204 0.1843 None gnomAD-4.0.0 6.81795E-06
7582 68 S/C 151 rs768179623 0.3163 None gnomAD-2.1.1 2.41E-05
7582 68 S/C 151 rs768179623 0.3163 None gnomAD-4.0.0 1.02655E-05
7584 70 Q/L 153 rs530109283 0.4961 None gnomAD-3.1.2 6.57E-06
7584 70 Q/L 153 rs530109283 0.4961 None 1000 genomes 1.99681E-04
7584 70 Q/L 153 rs530109283 0.4961 None gnomAD-4.0.0 6.5653E-06
7584 70 Q/R 153 rs530109283 0.4961 None gnomAD-3.1.2 6.57E-06
7584 70 Q/R 153 rs530109283 0.4961 None gnomAD-4.0.0 2.02982E-06
7585 71 Y/C 154 None 0.0925 None gnomAD-4.0.0 1.20032E-06
7586 72 T/I 155 None 0.1967 None gnomAD-4.0.0 2.40064E-06
7589 75 A/V 158 None 0.0868 None gnomAD-4.0.0 1.5928E-06
7590 76 T/A 159 None 0.3032 None gnomAD-4.0.0 1.20032E-06
7590 76 T/N 159 rs1486219064 0.3032 None gnomAD-3.1.2 6.57E-06
7590 76 T/N 159 rs1486219064 0.3032 None gnomAD-4.0.0 6.57142E-06
7591 77 N/S 161 rs368750726 0.1691 None gnomAD-2.1.1 8.06E-06
7591 77 N/S 161 rs368750726 0.1691 None gnomAD-3.1.2 1.97E-05
7591 77 N/S 161 rs368750726 0.1691 None gnomAD-4.0.0 1.2399E-05
7591 77 N/T 161 rs368750726 0.1691 None gnomAD-2.1.1 4.03E-06
7592 78 D/E 162 None 0.8332 None gnomAD-4.0.0 6.84583E-07
7593 79 V/A 163 rs758335261 0.8181 None gnomAD-2.1.1 4.03E-06
7593 79 V/A 163 rs758335261 0.8181 None gnomAD-4.0.0 1.59349E-06
7594 80 G/D 164 None 0.2470 None gnomAD-4.0.0 1.59456E-06
7594 80 G/V 164 None 0.2470 None gnomAD-4.0.0 1.59456E-06
7595 81 K/Q 165 None 0.6921 None gnomAD-4.0.0 1.59404E-06
7595 81 K/R 165 rs2078423913 0.6921 None gnomAD-4.0.0 1.59412E-06
7596 82 D/E 166 None 0.2306 None gnomAD-4.0.0 1.59471E-06
7596 82 D/H 166 rs72648970 0.2306 None gnomAD-2.1.1 2.80405E-02
7596 82 D/H 166 rs72648970 0.2306 None gnomAD-3.1.2 2.43494E-02
7596 82 D/H 166 rs72648970 0.2306 None 1000 genomes 2.01677E-02
7596 82 D/H 166 rs72648970 0.2306 None gnomAD-4.0.0 3.37577E-02
7596 82 D/N 166 None 0.2306 None gnomAD-4.0.0 6.84868E-07
7596 82 D/Y 166 rs72648970 0.2306 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.4586 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.4586 None gnomAD-4.0.0 1.36975E-06
7597 83 M/L 168 None 0.4586 None gnomAD-4.0.0 1.20033E-06
7597 83 M/T 168 None 0.4586 None gnomAD-4.0.0 2.7395E-06
7598 84 C/S 169 rs1316768329 0.0978 None gnomAD-2.1.1 4.05E-06
7598 84 C/S 169 rs1316768329 0.0978 None gnomAD-4.0.0 1.59652E-06
7599 85 S/L 171 None 0.3457 None gnomAD-4.0.0 1.59696E-06
7599 85 S/P 171 None 0.3457 None gnomAD-4.0.0 1.5965E-06
7600 86 A/S 172 rs757523256 0.1070 None gnomAD-2.1.1 1.22E-05
7600 86 A/S 172 rs757523256 0.1070 None gnomAD-4.0.0 4.79971E-06
7600 86 A/T 172 None 0.1070 None gnomAD-4.0.0 1.5999E-06
7600 86 A/V 172 None 0.1070 None gnomAD-4.0.0 1.59886E-06
7601 87 Q/P 173 None 0.2669 None gnomAD-4.0.0 6.86339E-07
7602 88 L/F 174 rs754142672 0.0922 None gnomAD-2.1.1 4.08E-06
7602 88 L/F 174 rs754142672 0.0922 None gnomAD-4.0.0 3.21054E-06
7603 89 S/G 175 None 0.2962 None gnomAD-4.0.0 6.92636E-07
7603 89 S/I 175 rs777949804 0.2962 None gnomAD-2.1.1 4.19E-06
7603 89 S/I 175 rs777949804 0.2962 None gnomAD-4.0.0 4.85413E-06