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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24616 1 R/Q 1 rs201694149 0.6509 None gnomAD-2.1.1 9.31E-05
24616 1 R/Q 1 rs201694149 0.6509 None gnomAD-3.1.2 6.58E-05
24616 1 R/Q 1 rs201694149 0.6509 None 1000 genomes 1.99681E-04
24616 1 R/Q 1 rs201694149 0.6509 None gnomAD-4.0.0 3.28692E-05
24617 2 P/R 2 rs1423389429 0.1335 None gnomAD-2.1.1 4.03E-06
24617 2 P/R 2 rs1423389429 0.1335 None gnomAD-3.1.2 6.57E-06
24617 2 P/R 2 rs1423389429 0.1335 None gnomAD-4.0.0 2.56495E-06
24618 3 L/P 3 None 0.5166 None gnomAD-4.0.0 1.59285E-06
24618 3 L/R 3 None 0.5166 None gnomAD-4.0.0 1.59285E-06
24619 4 P/L 4 None 0.2738 None gnomAD-4.0.0 1.59284E-06
24620 5 P/L 5 rs370763285 0.1514 None gnomAD-2.1.1 3.94E-05
24620 5 P/L 5 rs370763285 0.1514 None gnomAD-3.1.2 2.63E-05
24620 5 P/L 5 rs370763285 0.1514 None gnomAD-4.0.0 5.20773E-05
24620 5 P/Q 5 None 0.1514 None gnomAD-4.0.0 6.84499E-07
24620 5 P/S 5 rs1191890177 0.1514 None gnomAD-2.1.1 4.04E-06
24621 6 G/R 6 rs776476061 0.2138 None gnomAD-2.1.1 8.07E-06
24621 6 G/R 6 rs776476061 0.2138 Other
Literature None
24621 6 G/R 6 rs776476061 0.2138 None gnomAD-4.0.0 7.5294E-06
24623 8 I/L 9 rs559112722 0.1775 None gnomAD-4.0.0 6.84451E-07
24623 8 I/T 9 rs746596254 0.1775 None gnomAD-2.1.1 8.07E-06
24623 8 I/T 9 rs746596254 0.1775 None gnomAD-3.1.2 6.59E-06
24623 8 I/T 9 rs746596254 0.1775 None gnomAD-4.0.0 3.84786E-06
24623 8 I/V 9 rs559112722 0.1775 None gnomAD-2.1.1 8.07E-06
24623 8 I/V 9 rs559112722 0.1775 None gnomAD-3.1.2 6.57E-06
24623 8 I/V 9 rs559112722 0.1775 None 1000 genomes 1.99681E-04
24623 8 I/V 9 rs559112722 0.1775 None gnomAD-4.0.0 3.09934E-06
24624 9 T/I 11 None 0.4583 None gnomAD-4.0.0 1.20032E-06
24625 10 L/M 12 rs545556079 0.3861 None gnomAD-2.1.1 4.04E-06
24625 10 L/M 12 rs545556079 0.3861 None gnomAD-4.0.0 1.36886E-06
24625 10 L/V 12 None 0.3861 None gnomAD-4.0.0 6.84428E-07
24626 11 M/I 13 rs1060500561 0.5956 None gnomAD-4.0.0 2.73769E-06
24627 12 D/G 14 None 0.5205 None gnomAD-4.0.0 1.20032E-06
24628 13 V/A 15 rs1277357050 0.2510 None gnomAD-2.1.1 4.04E-06
24628 13 V/A 15 rs1277357050 0.2510 None gnomAD-4.0.0 1.59224E-06
24629 14 T/A 16 rs1708480217 0.2869 None gnomAD-3.1.2 6.58E-06
24629 14 T/A 16 rs1708480217 0.2869 None gnomAD-4.0.0 4.9589E-06
24630 15 R/G 17 rs573355547 0.6313 None gnomAD-2.1.1 1.61E-05
24630 15 R/G 17 rs573355547 0.6313 None gnomAD-3.1.2 1.32E-05
24630 15 R/G 17 rs573355547 0.6313 None 1000 genomes 1.99681E-04
24630 15 R/G 17 rs573355547 0.6313 None gnomAD-4.0.0 4.33869E-06
24630 15 R/S 17 None 0.6313 None gnomAD-4.0.0 1.20032E-06
24631 16 N/I 18 None 0.4939 None gnomAD-4.0.0 1.20032E-06
24634 19 S/P 21 rs1387907795 0.2191 None gnomAD-2.1.1 4.04E-06
24634 19 S/P 21 rs1387907795 0.2191 None gnomAD-4.0.0 1.59208E-06
24635 20 L/V 22 rs757091463 0.1647 None gnomAD-2.1.1 4.04E-06
24635 20 L/V 22 rs757091463 0.1647 None gnomAD-3.1.2 6.57E-06
24635 20 L/V 22 rs757091463 0.1647 None gnomAD-4.0.0 2.56348E-06
24636 21 S/C 23 None 0.2511 None gnomAD-4.0.0 6.1593E-06
24636 21 S/F 23 rs1708469401 0.2511 None gnomAD-4.0.0 3.42183E-06
24638 23 E/K 25 rs867655242 0.5025 None gnomAD-4.0.0 1.3687E-06
24640 25 P/T 27 None 0.2331 None gnomAD-4.0.0 1.59203E-06
24641 26 E/K 28 rs993198870 1.0457 None gnomAD-4.0.0 3.42178E-06
24641 26 E/Q 28 None 1.0457 None gnomAD-4.0.0 6.84356E-06
24641 26 E/V 28 rs754060793 1.0457 None gnomAD-2.1.1 8.07E-06
24641 26 E/V 28 rs754060793 1.0457 None gnomAD-3.1.2 6.57E-06
24641 26 E/V 28 rs754060793 1.0457 None gnomAD-4.0.0 7.43779E-06
24642 27 H/R 29 None 0.6576 None gnomAD-4.0.0 4.77602E-06
24643 28 D/N 30 None 0.3141 None gnomAD-4.0.0 1.59199E-06
24643 28 D/Y 30 rs536049211 0.3141 None gnomAD-3.1.2 6.57E-06
24643 28 D/Y 30 rs536049211 0.3141 None 1000 genomes 1.99681E-04
24643 28 D/Y 30 rs536049211 0.3141 None gnomAD-4.0.0 6.5684E-06
24644 29 G/R 31 rs1553606142 0.3782 None gnomAD-3.1.2 6.57E-06
24644 29 G/R 31 rs1553606142 0.3782 None gnomAD-4.0.0 2.03002E-06
24646 31 S/C 33 rs1424678846 0.2814 None gnomAD-2.1.1 3.63E-05
24646 31 S/C 33 rs1424678846 0.2814 None gnomAD-3.1.2 4.6E-05
24646 31 S/C 33 rs1424678846 0.2814 None gnomAD-4.0.0 2.43511E-05
24646 31 S/N 33 rs370902028 0.2814 None gnomAD-2.1.1 7.17E-05
24646 31 S/N 33 rs370902028 0.2814 None gnomAD-3.1.2 4.6E-05
24646 31 S/N 33 rs370902028 0.2814 None gnomAD-4.0.0 5.20666E-05
24646 31 S/T 33 None 0.2814 None gnomAD-4.0.0 6.84363E-07
24647 32 R/Q 34 rs767512581 0.7168 None gnomAD-2.1.1 2.42E-05
24647 32 R/Q 34 rs767512581 0.7168 None gnomAD-3.1.2 1.31E-05
24647 32 R/Q 34 rs767512581 0.7168 None gnomAD-4.0.0 2.54132E-05
24649 34 L/P 36 rs1559410802 0.4885 None gnomAD-2.1.1 4.04E-06
24649 34 L/P 36 rs1559410802 0.4885 None gnomAD-4.0.0 1.36872E-06
24649 34 L/V 36 None 0.4885 None gnomAD-4.0.0 1.20032E-06
24650 35 G/D 37 None 0.2036 None gnomAD-4.0.0 3.18425E-06
24651 36 Y/H 38 None 0.1664 None gnomAD-4.0.0 1.59209E-06
24652 37 I/F 39 rs760045336 0.3044 None gnomAD-2.1.1 6.37E-05
24652 37 I/F 39 rs760045336 0.3044 None gnomAD-3.1.2 1.31E-05
24652 37 I/F 39 rs760045336 0.3044 None gnomAD-4.0.0 5.12675E-06
24652 37 I/L 39 None 0.3044 None gnomAD-4.0.0 1.5921E-06
24652 37 I/N 39 None 0.3044 None gnomAD-3.1.2 6.57E-06
24652 37 I/N 39 None 0.3044 None gnomAD-4.0.0 6.57454E-06
24652 37 I/S 39 rs377752584 0.3044 None gnomAD-2.1.1 4.04E-06
24652 37 I/S 39 rs377752584 0.3044 None gnomAD-4.0.0 1.36872E-06
24652 37 I/T 39 rs377752584 0.3044 None gnomAD-2.1.1 6.37E-05
24652 37 I/T 39 rs377752584 0.3044 None gnomAD-3.1.2 2.63E-05
24652 37 I/T 39 rs377752584 0.3044 None gnomAD-4.0.0 4.95871E-06
24653 38 V/G 40 None 0.1295 None gnomAD-4.0.0 1.36872E-06
24653 38 V/M 40 None 0.1295 None gnomAD-4.0.0 1.20032E-06
24654 39 E/Q 41 rs766830917 0.1573 None gnomAD-2.1.1 4.04E-06
24655 40 M/T 42 rs1575757808 0.3199 None gnomAD-4.0.0 1.20032E-06
24656 41 Q/K 43 rs763473286 0.1692 None gnomAD-2.1.1 4.04E-06
24656 41 Q/K 43 rs763473286 0.1692 None gnomAD-4.0.0 1.59216E-06
24657 42 T/P 44 None 0.4060 None gnomAD-4.0.0 1.59207E-06
24658 43 K/E 50 None 0.6129 None gnomAD-4.0.0 1.59207E-06
24659 44 G/A 51 rs548189007 0.6739 None gnomAD-2.1.1 4.04E-06
24659 44 G/A 51 rs548189007 0.6739 None gnomAD-4.0.0 1.16342E-05
24659 44 G/S 51 rs776423108 0.6739 None gnomAD-2.1.1 1.21E-05
24659 44 G/S 51 rs776423108 0.6739 None gnomAD-3.1.2 1.97E-05
24659 44 G/S 51 rs776423108 0.6739 None gnomAD-4.0.0 1.97213E-05
24660 45 S/N 60 rs1444695129 0.2626 None gnomAD-3.1.2 6.57E-06
24660 45 S/N 60 rs1444695129 0.2626 None gnomAD-4.0.0 1.23967E-06
24662 47 K/N 64 None 0.8535 None gnomAD-4.0.0 1.59218E-06
24662 47 K/R 64 None 0.8535 None gnomAD-4.0.0 1.20032E-06
24664 49 A/G 66 rs928815429 0.3634 None gnomAD-3.1.2 6.58E-06
24664 49 A/G 66 rs928815429 0.3634 None gnomAD-4.0.0 6.57531E-06
24665 50 T/A 67 rs768288835 0.4846 None gnomAD-2.1.1 4.04E-06
24665 50 T/A 67 rs768288835 0.4846 None gnomAD-4.0.0 1.59229E-06
24665 50 T/M 67 rs144398602 0.4846 None gnomAD-2.1.1 1.21839E-04
24665 50 T/M 67 rs144398602 0.4846 None gnomAD-3.1.2 1.05209E-04
24665 50 T/M 67 rs144398602 0.4846 None 1000 genomes 5.99042E-04
24665 50 T/M 67 rs144398602 0.4846 None gnomAD-4.0.0 1.01653E-04
24667 52 A/T 69 None 0.2638 None gnomAD-4.0.0 1.20032E-06
24668 53 T/I 70 rs771515164 0.5675 None gnomAD-2.1.1 4.04E-06
24668 53 T/I 70 rs771515164 0.5675 None gnomAD-4.0.0 6.84429E-07
24668 53 T/R 70 None 0.5675 None gnomAD-4.0.0 6.84429E-07
24669 54 V/I 77 rs768046818 0.2346 None gnomAD-4.0.0 1.02665E-05
24671 56 V/A 88 None 0.5809 None gnomAD-4.0.0 1.59257E-06
24671 56 V/I 88 rs1708427922 0.5809 None gnomAD-3.1.2 6.58E-06
24671 56 V/I 88 rs1708427922 0.5809 None gnomAD-4.0.0 9.9187E-06
24673 58 E/K 90 rs745794676 0.6462 None gnomAD-4.0.0 1.59302E-06
24674 59 A/V 91 rs1158950009 0.2260 None gnomAD-4.0.0 1.20032E-06
24675 60 T/S 92 rs1553606008 0.5026 None gnomAD-4.0.0 1.59264E-06
24676 61 I/N 93 rs778879302 0.2061 None gnomAD-2.1.1 4.04E-06
24676 61 I/T 93 rs778879302 0.2061 None gnomAD-2.1.1 3.19E-05
24676 61 I/T 93 rs778879302 0.2061 None gnomAD-3.1.2 6.58E-06
24676 61 I/T 93 rs778879302 0.2061 None gnomAD-4.0.0 6.57566E-06
24677 62 T/A 94 rs1708422337 0.7081 None gnomAD-3.1.2 6.58E-06
24677 62 T/A 94 rs1708422337 0.7081 None gnomAD-4.0.0 6.57635E-06
24677 62 T/S 94 rs749016497 0.7081 None gnomAD-2.1.1 4.04E-06
24677 62 T/S 94 rs749016497 0.7081 None gnomAD-3.1.2 6.58E-06
24677 62 T/S 94 rs749016497 0.7081 None gnomAD-4.0.0 1.23976E-06
24678 63 G/E 96 rs1708418492 0.5100 None gnomAD-4.0.0 3.18518E-06
24678 63 G/R 96 rs756307970 0.5100 None gnomAD-2.1.1 8.07E-06
24678 63 G/R 96 rs756307970 0.5100 None gnomAD-4.0.0 3.18522E-06
24679 64 L/I 97 rs752890306 0.1456 None gnomAD-2.1.1 8.07E-06
24679 64 L/I 97 rs752890306 0.1456 None gnomAD-4.0.0 3.18495E-06
24680 65 I/F 98 rs1381899333 0.6251 None gnomAD-3.1.2 1.32E-05
24680 65 I/F 98 rs1381899333 0.6251 None gnomAD-4.0.0 3.0451E-06
24681 66 Q/R 99 rs537071956 0.5730 None gnomAD-2.1.1 4.08444E-04
24681 66 Q/R 99 rs537071956 0.5730 None gnomAD-3.1.2 1.77517E-04
24681 66 Q/R 99 rs537071956 0.5730 None 1000 genomes 9.98403E-04
24681 66 Q/R 99 rs537071956 0.5730 None gnomAD-4.0.0 1.15295E-04
24682 67 G/D 100 rs879033144 0.3450 None gnomAD-4.0.0 1.59246E-06
24682 67 G/S 100 rs1708412775 0.3450 None gnomAD-4.0.0 6.84449E-07
24682 67 G/V 100 rs879033144 0.3450 None gnomAD-2.1.1 4.04E-06
24682 67 G/V 100 rs879033144 0.3450 None gnomAD-4.0.0 1.59246E-06
24683 68 E/A 102 rs1708407970 0.4302 None gnomAD-4.0.0 3.18489E-06
24683 68 E/K 102 rs755064877 0.4302 None gnomAD-2.1.1 1.21E-05
24683 68 E/K 102 rs755064877 0.4302 None gnomAD-3.1.2 6.58E-06
24683 68 E/K 102 rs755064877 0.4302 None gnomAD-4.0.0 6.40999E-06
24684 69 E/A 103 None 0.2622 None gnomAD-4.0.0 6.8443E-07
24684 69 E/G 103 rs767059836 0.2622 None gnomAD-4.0.0 6.8443E-07
24684 69 E/V 103 None 0.2622 None gnomAD-4.0.0 6.8443E-07
24685 70 Y/S 104 None 0.1478 None gnomAD-4.0.0 1.20032E-06
24686 71 S/C 105 rs727504921 0.2033 None gnomAD-2.1.1 8.07E-06
24686 71 S/C 105 rs727504921 0.2033 None gnomAD-4.0.0 6.36981E-06
24686 71 S/F 105 rs727504921 0.2033 None gnomAD-2.1.1 8.07E-06
24686 71 S/F 105 rs727504921 0.2033 None gnomAD-4.0.0 6.36981E-06
24687 72 F/L 106 rs760337531 0.1643 None gnomAD-2.1.1 8.07E-06
24687 72 F/L 106 rs760337531 0.1643 None gnomAD-4.0.0 2.73764E-06
24687 72 F/Y 106 rs775051314 0.1643 None gnomAD-2.1.1 8.07E-06
24687 72 F/Y 106 rs775051314 0.1643 None gnomAD-4.0.0 2.73767E-06
24688 73 R/C 107 rs771595253 0.1499 None gnomAD-2.1.1 1.79E-05
24688 73 R/C 107 rs771595253 0.1499 None gnomAD-3.1.2 1.32E-05
24688 73 R/C 107 rs771595253 0.1499 None gnomAD-4.0.0 3.40965E-05
24688 73 R/H 107 rs376988498 0.1499 None gnomAD-2.1.1 2.82E-05
24688 73 R/H 107 rs376988498 0.1499 None gnomAD-3.1.2 1.32E-05
24688 73 R/H 107 rs376988498 0.1499 None gnomAD-4.0.0 2.7897E-05
24691 76 A/P 110 None 0.1000 None gnomAD-4.0.0 1.20032E-06
24691 76 A/V 110 None 0.1000 None gnomAD-4.0.0 1.20032E-06
24693 78 N/S 112 rs372479952 0.1178 None gnomAD-2.1.1 4.03E-06
24693 78 N/Y 112 rs770797051 0.1178 None gnomAD-2.1.1 4.03E-06
24693 78 N/Y 112 rs770797051 0.1178 None gnomAD-4.0.0 1.36883E-06
24695 80 K/Q 114 None 0.7696 None gnomAD-4.0.0 1.20032E-06
24698 83 S/I 118 rs769515743 0.1036 None gnomAD-2.1.1 4.03E-06
24698 83 S/I 118 rs769515743 0.1036 None gnomAD-4.0.0 3.18486E-06
24698 83 S/N 118 rs769515743 0.1036 None gnomAD-2.1.1 4.03E-06
24698 83 S/N 118 rs769515743 0.1036 None gnomAD-4.0.0 1.59243E-06
24702 87 Q/K 122 None 0.4195 None gnomAD-4.0.0 6.8445E-07
24703 88 L/P 123 None 0.2430 None gnomAD-4.0.0 1.36885E-06
24704 89 S/R 124 rs397517697 0.7548 None gnomAD-3.1.2 6.58E-06
24704 89 S/R 124 rs397517697 0.7548 None gnomAD-4.0.0 6.578E-06
24705 90 V/A 125 rs751622854 0.6416 None gnomAD-4.0.0 6.84428E-07
24705 90 V/E 125 rs751622854 0.6416 None gnomAD-2.1.1 4.03E-06
24705 90 V/E 125 rs751622854 0.6416 None gnomAD-4.0.0 6.84428E-07
24705 90 V/M 125 rs755082167 0.6416 None gnomAD-2.1.1 8.07E-06
24705 90 V/M 125 rs755082167 0.6416 None gnomAD-4.0.0 1.36888E-06
24706 91 P/S 126 None 0.4827 None gnomAD-4.0.0 2.05342E-06
24707 92 V/A 127 None 0.2026 None gnomAD-4.0.0 1.36887E-06
24707 92 V/E 127 rs780299418 0.2026 None gnomAD-3.1.2 6.57E-06
24707 92 V/E 127 rs780299418 0.2026 None gnomAD-4.0.0 1.23978E-06
24707 92 V/M 127 rs2154169785 0.2026 None gnomAD-4.0.0 1.59249E-06
24708 93 I/F 129 rs1364240717 0.4570 None gnomAD-2.1.1 4.03E-06
24708 93 I/F 129 rs1364240717 0.4570 None gnomAD-4.0.0 1.59249E-06
24708 93 I/M 129 rs758928659 0.4570 None gnomAD-2.1.1 4.04E-06
24708 93 I/M 129 rs758928659 0.4570 None gnomAD-4.0.0 6.84455E-07
24709 94 A/T 130 rs207462679 0.0819 None gnomAD-2.1.1 8.07E-06
24709 94 A/T 130 rs207462679 0.0819 None gnomAD-3.1.2 6.58E-06
24709 94 A/T 130 rs207462679 0.0819 None gnomAD-4.0.0 4.33984E-06
24710 95 K/T 131 None 0.5394 None gnomAD-4.0.0 1.59243E-06
24711 96 D/E 132 rs1708361319 0.6507 None gnomAD-4.0.0 2.0533E-06
24711 96 D/V 132 rs765607630 0.6507 None gnomAD-2.1.1 1.21E-05
24711 96 D/V 132 rs765607630 0.6507 None gnomAD-4.0.0 4.79102E-06
24711 96 D/Y 132 rs751001455 0.6507 None gnomAD-2.1.1 4.03E-06
24711 96 D/Y 132 rs751001455 0.6507 None gnomAD-4.0.0 1.59249E-06