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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9590 1 P/R 1 rs867410935 0.1800 None gnomAD-2.1.1 4.16E-06
9590 1 P/R 1 rs867410935 0.1800 None gnomAD-4.0.0 1.6461E-06
9591 2 V/I 2 None 0.5987 None gnomAD-4.0.0 1.64259E-06
9593 4 D/E 4 None 0.4339 None gnomAD-4.0.0 1.20032E-06
9593 4 D/N 4 None 0.4339 None gnomAD-4.0.0 1.38024E-06
9595 6 H/Q 7 rs773200956 0.6544 None gnomAD-2.1.1 4.04E-06
9595 6 H/R 7 None 0.6544 None gnomAD-4.0.0 1.60302E-06
9595 6 H/Y 7 rs558999754 0.6544 None gnomAD-2.1.1 4.04E-06
9595 6 H/Y 7 rs558999754 0.6544 None gnomAD-3.1.2 6.57E-06
9595 6 H/Y 7 rs558999754 0.6544 None 1000 genomes 1.99681E-04
9595 6 H/Y 7 rs558999754 0.6544 None gnomAD-4.0.0 6.56401E-06
9596 7 L/F 8 rs2076095126 0.1649 None gnomAD-3.1.2 6.57E-06
9596 7 L/F 8 rs2076095126 0.1649 None gnomAD-4.0.0 6.44154E-06
9597 8 T/A 9 rs761562146 0.7488 None gnomAD-2.1.1 4.03E-06
9597 8 T/A 9 rs761562146 0.7488 None gnomAD-3.1.2 1.31E-05
9597 8 T/A 9 rs761562146 0.7488 None gnomAD-4.0.0 2.48129E-06
9597 8 T/I 9 rs367748413 0.7488 None gnomAD-2.1.1 1.07E-05
9597 8 T/I 9 rs367748413 0.7488 None gnomAD-3.1.2 1.97E-05
9597 8 T/I 9 rs367748413 0.7488 None gnomAD-4.0.0 5.58257E-06
9597 8 T/S 9 rs761562146 0.7488 None gnomAD-2.1.1 4.03E-06
9597 8 T/S 9 rs761562146 0.7488 None gnomAD-4.0.0 6.84979E-07
9598 9 P/S 11 None 0.6108 None gnomAD-4.0.0 1.20032E-06
9599 10 V/I 13 rs887090503 0.3104 None gnomAD-4.0.0 1.36882E-06
9599 10 V/L 13 rs887090503 0.3104 None gnomAD-2.1.1 7.14E-06
9599 10 V/L 13 rs887090503 0.3104 None gnomAD-3.1.2 6.57E-06
9599 10 V/L 13 rs887090503 0.3104 None gnomAD-4.0.0 9.29766E-06
9600 11 T/I 14 None 0.4634 None gnomAD-4.0.0 1.59213E-06
9601 12 V/E 16 rs1436259872 0.1884 None gnomAD-2.1.1 8.04E-06
9601 12 V/E 16 rs1436259872 0.1884 None gnomAD-4.0.0 2.73761E-06
9601 12 V/M 16 rs1310690220 0.1884 None gnomAD-2.1.1 4.02E-06
9601 12 V/M 16 rs1310690220 0.1884 None gnomAD-4.0.0 2.40064E-06
9602 13 S/R 18 rs768790360 0.3342 None gnomAD-2.1.1 8.04E-06
9602 13 S/R 18 rs768790360 0.3342 None gnomAD-4.0.0 3.18313E-06
9603 14 E/G 23 None 0.4232 None gnomAD-4.0.0 1.59134E-06
9604 15 G/E 24 rs1469017379 0.3614 None gnomAD-2.1.1 4.02E-06
9604 15 G/E 24 rs1469017379 0.3614 None gnomAD-4.0.0 3.18275E-06
9606 17 Y/C 26 rs1408526622 0.3619 None gnomAD-4.0.0 1.59119E-06
9606 17 Y/H 26 None 0.3619 None gnomAD-4.0.0 2.05259E-06
9607 18 V/L 28 None 0.1709 None gnomAD-4.0.0 6.84195E-07
9607 18 V/M 28 rs375807609 0.1709 None gnomAD-2.1.1 1.10543E-04
9607 18 V/M 28 rs375807609 0.1709 None gnomAD-3.1.2 5.26E-05
9607 18 V/M 28 rs375807609 0.1709 None 1000 genomes 1.99681E-04
9607 18 V/M 28 rs375807609 0.1709 None gnomAD-4.0.0 5.20488E-05
9610 21 S/N 31 rs371759532 0.3522 None gnomAD-2.1.1 7.49E-05
9610 21 S/N 31 rs371759532 0.3522 None gnomAD-3.1.2 1.97055E-04
9610 21 S/N 31 rs371759532 0.3522 None gnomAD-4.0.0 3.408E-05
9612 23 H/L 34 rs779340510 0.2751 None gnomAD-2.1.1 4.01E-06
9612 23 H/L 34 rs779340510 0.2751 None gnomAD-4.0.0 1.59106E-06
9612 23 H/Q 34 None 0.2751 None gnomAD-4.0.0 6.8417E-07
9612 23 H/R 34 rs779340510 0.2751 None gnomAD-2.1.1 8.03E-06
9612 23 H/R 34 rs779340510 0.2751 None gnomAD-4.0.0 3.18212E-06
9613 24 V/I 35 rs749649816 0.1123 None gnomAD-2.1.1 4.01E-06
9613 24 V/I 35 rs749649816 0.1123 None gnomAD-4.0.0 1.59106E-06
9614 25 Q/K 38 None 0.6077 None gnomAD-4.0.0 3.60097E-06
9615 26 G/E 40 rs754640016 0.4723 None gnomAD-4.0.0 6.84164E-07
9615 26 G/R 40 rs780834082 0.4723 None gnomAD-2.1.1 4.01E-06
9615 26 G/R 40 rs780834082 0.4723 None gnomAD-4.0.0 1.59101E-06
9615 26 G/V 40 rs754640016 0.4723 None gnomAD-2.1.1 4.01E-06
9615 26 G/V 40 rs754640016 0.4723 None gnomAD-4.0.0 1.36833E-06
9617 28 E/K 42 rs144025230 0.4665 None gnomAD-2.1.1 4.28E-05
9617 28 E/K 42 rs144025230 0.4665 None gnomAD-3.1.2 5.91E-05
9617 28 E/K 42 rs144025230 0.4665 None 1000 genomes 1.99681E-04
9617 28 E/K 42 rs144025230 0.4665 None gnomAD-4.0.0 3.22185E-05
9619 30 I/F 44 rs1446542554 0.1276 None gnomAD-4.0.0 6.84168E-07
9619 30 I/T 44 rs530257812 0.1276 None gnomAD-2.1.1 4.01E-06
9619 30 I/T 44 rs530257812 0.1276 None gnomAD-3.1.2 6.57E-06
9619 30 I/T 44 rs530257812 0.1276 None 1000 genomes 1.99681E-04
9619 30 I/T 44 rs530257812 0.1276 None gnomAD-4.0.0 6.56564E-06
9619 30 I/V 44 None 0.1276 None gnomAD-4.0.0 3.42084E-06
9620 31 R/K 45 None 0.6722 None gnomAD-4.0.0 1.59104E-06
9621 32 I/N 46 None 0.1878 None gnomAD-4.0.0 1.59103E-06
9623 34 W/L 48 None 0.1270 None gnomAD-4.0.0 6.8417E-07
9623 34 W/S 48 None 0.1270 None gnomAD-4.0.0 6.8417E-07
9624 35 L/W 49 None 0.1987 None gnomAD-4.0.0 1.59101E-06
9625 36 K/R 50 None 0.2094 None gnomAD-4.0.0 1.20032E-06
9626 37 A/D 51 rs397517530 0.6911 None gnomAD-2.1.1 1.78E-05
9626 37 A/D 51 rs397517530 0.6911 None gnomAD-3.1.2 1.31E-05
9626 37 A/D 51 rs397517530 0.6911 None gnomAD-4.0.0 4.33751E-05
9626 37 A/V 51 None 0.6911 None gnomAD-4.0.0 6.84169E-07
9627 38 G/D 52 rs878908638 0.5321 None gnomAD-2.1.1 1.2E-05
9627 38 G/D 52 rs878908638 0.5321 None gnomAD-4.0.0 2.73669E-06
9628 39 R/G 55 None 0.8200 None gnomAD-4.0.0 1.20032E-06
9628 39 R/W 55 rs1286102161 0.8200 None gnomAD-3.1.2 6.57E-06
9628 39 R/W 55 rs1286102161 0.8200 None gnomAD-4.0.0 6.56927E-06
9629 40 E/K 56 None 0.5039 None gnomAD-4.0.0 1.20032E-06
9630 41 I/T 58 None 0.1829 None gnomAD-4.0.0 1.36834E-06
9632 43 P/L 70 rs1398429600 0.4991 None gnomAD-2.1.1 8.03E-06
9632 43 P/L 70 rs1398429600 0.4991 None gnomAD-4.0.0 6.36436E-06
9632 43 P/S 70 rs1223602495 0.4991 None gnomAD-3.1.2 6.57E-06
9632 43 P/S 70 rs1223602495 0.4991 None gnomAD-4.0.0 1.15283E-05
9634 45 D/E 109 rs2076081318 1.1013 None gnomAD-3.1.2 6.57E-06
9634 45 D/E 109 rs2076081318 1.1013 None gnomAD-4.0.0 1.59109E-06
9635 46 R/G 115 rs397517531 0.4622 None gnomAD-2.1.1 4.02E-06
9635 46 R/G 115 rs397517531 0.4622 None gnomAD-4.0.0 3.42088E-06
9636 47 C/R 121 rs2076080616 0.1595 None gnomAD-4.0.0 1.36836E-06
9636 47 C/Y 121 rs1434739895 0.1595 None gnomAD-2.1.1 3.19E-05
9636 47 C/Y 121 rs1434739895 0.1595 None gnomAD-3.1.2 6.57E-06
9636 47 C/Y 121 rs1434739895 0.1595 None gnomAD-4.0.0 6.57013E-06
9637 48 S/G 122 rs1160550023 0.3339 None gnomAD-2.1.1 4.02E-06
9637 48 S/N 122 None 0.3339 None gnomAD-4.0.0 1.36836E-06
9637 48 S/R 122 rs1160550023 0.3339 None gnomAD-3.1.2 6.57E-06
9637 48 S/R 122 rs1160550023 0.3339 None gnomAD-4.0.0 6.56996E-06
9638 49 F/V 123 rs2076079100 0.3585 None gnomAD-4.0.0 2.40064E-06
9639 50 S/G 125 rs2076078756 0.4600 None gnomAD-3.1.2 6.57E-06
9639 50 S/G 125 rs2076078756 0.4600 None gnomAD-4.0.0 6.56927E-06
9642 53 S/G 131 rs367888853 0.8191 None gnomAD-2.1.1 3.62E-05
9642 53 S/G 131 rs367888853 0.8191 None gnomAD-3.1.2 2.63E-05
9642 53 S/G 131 rs367888853 0.8191 None gnomAD-4.0.0 3.53208E-05
9642 53 S/N 131 rs1461432268 0.8191 None gnomAD-2.1.1 4.02E-06
9642 53 S/R 131 None 0.8191 None gnomAD-4.0.0 2.05255E-06
9642 53 S/T 131 None 0.8191 None gnomAD-4.0.0 3.18224E-06
9643 54 G/A 134 rs1190523795 0.1435 None gnomAD-2.1.1 4.02E-06
9643 54 G/A 134 rs1190523795 0.1435 None gnomAD-4.0.0 4.78933E-06
9646 57 V/I 137 rs765109515 0.2144 None gnomAD-2.1.1 4.02E-06
9646 57 V/I 137 rs765109515 0.2144 None gnomAD-4.0.0 3.1824E-06
9646 57 V/L 137 rs765109515 0.2144 None gnomAD-2.1.1 2.01E-05
9646 57 V/L 137 rs765109515 0.2144 None gnomAD-4.0.0 1.75032E-05
9647 58 L/M 138 None 0.0805 None gnomAD-2.1.1 4.02E-06
9647 58 L/M 138 None 0.0805 None gnomAD-4.0.0 1.59119E-06
9650 61 R/G 141 None 0.5884 None gnomAD-4.0.0 1.59115E-06
9651 62 D/E 143 None 0.5724 None gnomAD-4.0.0 2.40065E-06
9651 62 D/N 143 None 0.5724 None gnomAD-4.0.0 2.73677E-06
9652 63 V/M 144 None 0.1351 None gnomAD-4.0.0 1.20032E-06
9656 67 D/N 149 rs1064797277 0.2959 None gnomAD-4.0.0 1.36839E-06
9657 68 S/L 151 rs200049911 0.2939 None gnomAD-2.1.1 3.06869E-04
9657 68 S/L 151 rs200049911 0.2939 None gnomAD-3.1.2 7.4262E-04
9657 68 S/L 151 rs200049911 0.2939 None 1000 genomes 1.59744E-03
9657 68 S/L 151 rs200049911 0.2939 None gnomAD-4.0.0 1.49335E-04
9657 68 S/T 151 None 0.2939 None gnomAD-4.0.0 1.20032E-06
9657 68 S/W 151 None 0.2939 None gnomAD-4.0.0 6.84208E-07
9658 69 G/R 152 rs1413237193 0.2358 None gnomAD-3.1.2 6.57E-06
9658 69 G/R 152 rs1413237193 0.2358 None gnomAD-4.0.0 2.56197E-06
9659 70 D/V 153 None 0.4512 None gnomAD-4.0.0 3.60097E-06
9661 72 V/A 155 None 0.2068 None gnomAD-4.0.0 1.59124E-06
9662 73 C/R 156 None 0.0611 None gnomAD-4.0.0 1.59122E-06
9664 75 A/P 158 rs1484358096 0.0871 None gnomAD-4.0.0 1.20032E-06
9666 77 N/K 161 None 0.2009 None gnomAD-4.0.0 1.5914E-06
9666 77 N/S 161 None 0.2009 None gnomAD-4.0.0 3.18275E-06
9667 78 V/M 162 None 1.0209 None gnomAD-4.0.0 1.59144E-06
9669 80 G/R 164 None 0.3163 None gnomAD-4.0.0 5.47421E-06
9671 82 D/G 166 rs530627450 0.2479 None gnomAD-3.1.2 6.57E-06
9671 82 D/G 166 rs530627450 0.2479 None 1000 genomes 1.99681E-04
9671 82 D/G 166 rs530627450 0.2479 None gnomAD-4.0.0 6.56435E-06
9672 83 T/I 168 rs769996978 0.4671 None gnomAD-2.1.1 1.43E-05
9672 83 T/I 168 rs769996978 0.4671 None gnomAD-3.1.2 3.29E-05
9672 83 T/I 168 rs769996978 0.4671 None gnomAD-4.0.0 6.07434E-05
9673 84 T/A 169 rs759713900 0.1094 None gnomAD-2.1.1 4.03E-06
9673 84 T/A 169 rs759713900 0.1094 None gnomAD-3.1.2 6.57E-06
9673 84 T/A 169 rs759713900 0.1094 None gnomAD-4.0.0 6.56978E-06
9673 84 T/N 169 None 0.1094 None gnomAD-4.0.0 9.5818E-06
9673 84 T/S 169 None 0.1094 None gnomAD-4.0.0 1.20032E-06
9674 85 K/Q 171 None 0.4701 None gnomAD-4.0.0 6.84432E-06
9675 86 S/A 172 None 0.1477 None gnomAD-4.0.0 1.59258E-06
9675 86 S/L 172 None 0.1477 None gnomAD-4.0.0 1.20032E-06
9678 89 T/A 175 None 0.3862 None gnomAD-4.0.0 3.60097E-06
9679 90 I/T 177 rs749610242 0.1730 None gnomAD-2.1.1 1.21E-05
9679 90 I/T 177 rs749610242 0.1730 None gnomAD-4.0.0 4.79419E-06