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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 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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24717 2 A/P 2 rs1243147358 0.3458 None gnomAD-2.1.1 4.04E-06
24717 2 A/P 2 rs1243147358 0.3458 None gnomAD-3.1.2 1.97E-05
24717 2 A/P 2 rs1243147358 0.3458 None gnomAD-4.0.0 5.12824E-06
24718 3 F/L 3 rs773802084 0.2265 None gnomAD-2.1.1 8.07E-06
24718 3 F/L 3 rs773802084 0.2265 None gnomAD-4.0.0 3.18498E-06
24718 3 F/S 3 None 0.2265 None gnomAD-4.0.0 1.20032E-06
24719 4 K/N 4 rs1708348947 0.5323 None gnomAD-3.1.2 6.58E-06
24719 4 K/N 4 rs1708348947 0.5323 None gnomAD-4.0.0 6.57981E-06
24720 5 L/F 5 None 0.2794 None gnomAD-4.0.0 1.20032E-06
24723 8 N/S 9 rs1708346317 0.6233 None gnomAD-4.0.0 2.40064E-06
24724 9 T/A 11 None 0.3514 None gnomAD-4.0.0 1.59237E-06
24724 9 T/I 11 rs528199512 0.3514 None gnomAD-3.1.2 6.57E-06
24724 9 T/I 11 rs528199512 0.3514 None 1000 genomes 1.99681E-04
24724 9 T/I 11 rs528199512 0.3514 None gnomAD-4.0.0 6.56849E-06
24726 11 T/A 14 rs1559408209 0.4131 None gnomAD-2.1.1 4.03E-06
24726 11 T/A 14 rs1559408209 0.4131 None gnomAD-4.0.0 4.1065E-06
24726 11 T/I 14 rs975263285 0.4131 None gnomAD-4.0.0 9.58161E-06
24726 11 T/S 14 None 0.4131 None gnomAD-4.0.0 6.84417E-07
24727 12 V/A 16 rs769619709 0.1339 None gnomAD-2.1.1 4.03E-06
24727 12 V/A 16 rs769619709 0.1339 None gnomAD-4.0.0 3.18468E-06
24727 12 V/I 16 rs773070815 0.1339 None gnomAD-2.1.1 4.03E-06
24727 12 V/I 16 rs773070815 0.1339 None gnomAD-4.0.0 6.84411E-07
24727 12 V/L 16 rs773070815 0.1339 None gnomAD-4.0.0 2.73764E-06
24728 13 L/P 18 rs1708337255 0.6812 None gnomAD-4.0.0 1.20032E-06
24729 14 A/T 23 rs372007344 0.4145 None gnomAD-2.1.1 2.51E-05
24729 14 A/T 23 rs372007344 0.4145 None gnomAD-3.1.2 1.97E-05
24729 14 A/T 23 rs372007344 0.4145 None gnomAD-4.0.0 1.36376E-05
24729 14 A/V 23 rs1162562703 0.4145 None gnomAD-2.1.1 4.03E-06
24729 14 A/V 23 rs1162562703 0.4145 None gnomAD-4.0.0 3.18464E-06
24730 15 G/D 24 rs781046518 0.2968 None gnomAD-3.1.2 1.32E-05
24730 15 G/D 24 rs781046518 0.2968 None gnomAD-4.0.0 6.81912E-06
24730 15 G/V 24 None 0.2968 None gnomAD-4.0.0 6.84434E-07
24731 16 E/G 25 rs76565211 0.5415 None gnomAD-4.0.0 3.18789E-06
24731 16 E/K 25 rs186780326 0.5415 None gnomAD-2.1.1 4.04E-06
24731 16 E/K 25 rs186780326 0.5415 None gnomAD-3.1.2 6.58E-06
24731 16 E/K 25 rs186780326 0.5415 None 1000 genomes 1.99681E-04
24731 16 E/K 25 rs186780326 0.5415 None gnomAD-4.0.0 4.33916E-06
24732 17 D/E 26 rs764541017 0.4614 None gnomAD-4.0.0 2.05349E-06
24732 17 D/G 26 None 0.4614 None gnomAD-4.0.0 1.5927E-06
24732 17 D/H 26 rs754089001 0.4614 None gnomAD-2.1.1 4.04E-06
24732 17 D/H 26 rs754089001 0.4614 None gnomAD-4.0.0 6.8451E-07
24732 17 D/N 26 None 0.4614 None gnomAD-4.0.0 1.36902E-06
24733 18 L/Q 28 None 0.1611 None gnomAD-4.0.0 1.20032E-06
24734 19 K/E 29 rs546829047 0.6021 None gnomAD-2.1.1 4.04E-06
24734 19 K/E 29 rs546829047 0.6021 None gnomAD-3.1.2 6.57E-06
24734 19 K/E 29 rs546829047 0.6021 None 1000 genomes 1.99681E-04
24734 19 K/E 29 rs546829047 0.6021 None gnomAD-4.0.0 5.12727E-06
24734 19 K/N 29 None 0.6021 None gnomAD-4.0.0 1.20032E-06
24735 20 V/A 30 rs993249767 0.1143 None gnomAD-3.1.2 6.58E-06
24735 20 V/A 30 rs993249767 0.1143 None gnomAD-4.0.0 1.23985E-06
24736 21 D/G 31 rs762510108 0.4291 None gnomAD-2.1.1 3.19E-05
24736 21 D/G 31 rs762510108 0.4291 None gnomAD-3.1.2 1.32E-05
24736 21 D/G 31 rs762510108 0.4291 None gnomAD-4.0.0 2.47967E-06
24738 23 P/L 34 None 0.2257 None gnomAD-4.0.0 1.59246E-06
24738 23 P/R 34 None 0.2257 None gnomAD-4.0.0 1.59246E-06
24738 23 P/T 34 None 0.2257 None gnomAD-4.0.0 1.59252E-06
24739 24 F/L 35 None 0.0897 None gnomAD-4.0.0 1.59234E-06
24740 25 I/T 38 rs773198304 0.4892 None gnomAD-2.1.1 8.07E-06
24740 25 I/T 38 rs773198304 0.4892 None gnomAD-4.0.0 3.18458E-06
24742 27 R/C 41 rs369489704 0.9595 None gnomAD-2.1.1 3.23E-05
24742 27 R/C 41 rs369489704 0.9595 None gnomAD-3.1.2 1.32E-05
24742 27 R/C 41 rs369489704 0.9595 None gnomAD-4.0.0 1.54978E-05
24742 27 R/H 41 rs761823581 0.9595 None gnomAD-2.1.1 1.79E-05
24742 27 R/H 41 rs761823581 0.9595 None gnomAD-3.1.2 3.95E-05
24742 27 R/H 41 rs761823581 0.9595 None gnomAD-4.0.0 1.3019E-05
24744 29 T/I 43 rs1708319578 0.4681 None gnomAD-4.0.0 8.21241E-06
24744 29 T/P 43 rs1359036046 0.4681 None gnomAD-3.1.2 6.58E-06
24744 29 T/P 43 rs1359036046 0.4681 None gnomAD-4.0.0 1.23976E-06
24744 29 T/S 43 rs1359036046 0.4681 None gnomAD-2.1.1 4.03E-06
24744 29 T/S 43 rs1359036046 0.4681 None gnomAD-4.0.0 6.8438E-07
24745 30 P/S 44 rs1708317889 0.1480 None gnomAD-3.1.2 6.58E-06
24747 32 V/A 46 None 0.2668 None gnomAD-4.0.0 2.05306E-06
24747 32 V/G 46 None 0.2668 None gnomAD-4.0.0 6.84353E-07
24747 32 V/I 46 rs776245661 0.2668 None gnomAD-2.1.1 8.06E-06
24747 32 V/I 46 rs776245661 0.2668 None gnomAD-4.0.0 6.84351E-06
24748 33 T/I 47 rs768606900 0.5053 None gnomAD-2.1.1 4.03E-06
24748 33 T/I 47 rs768606900 0.5053 None gnomAD-3.1.2 6.58E-06
24748 33 T/I 47 rs768606900 0.5053 None gnomAD-4.0.0 5.57875E-06
24751 36 K/R 50 rs1280335155 0.1712 None gnomAD-2.1.1 4.03E-06
24751 36 K/R 50 rs1280335155 0.1712 None gnomAD-4.0.0 1.59196E-06
24752 37 D/E 51 None 0.5129 None gnomAD-4.0.0 1.5919E-06
24752 37 D/G 51 rs775906538 0.5129 None gnomAD-2.1.1 4.03E-06
24752 37 D/G 51 rs775906538 0.5129 None gnomAD-4.0.0 1.59189E-06
24752 37 D/N 51 None 0.5129 None gnomAD-4.0.0 7.52769E-06
24752 37 D/Y 51 rs747206654 0.5129 None gnomAD-2.1.1 8.05E-06
24752 37 D/Y 51 rs747206654 0.5129 None gnomAD-3.1.2 6.58E-06
24752 37 D/Y 51 rs747206654 0.5129 None gnomAD-4.0.0 1.8595E-06
24753 38 N/K 52 None 0.9821 None gnomAD-4.0.0 6.84323E-07
24754 39 V/A 55 rs12616029 0.5471 None gnomAD-2.1.1 8.05E-06
24754 39 V/A 55 rs12616029 0.5471 None gnomAD-4.0.0 9.55107E-06
24754 39 V/I 55 None 0.5471 None gnomAD-4.0.0 1.5919E-06
24755 40 P/S 56 rs1708309108 0.5160 None gnomAD-4.0.0 5.47455E-06
24755 40 P/T 56 None 0.5160 None gnomAD-4.0.0 2.05296E-06
24757 42 K/R 59 None 0.8544 None gnomAD-4.0.0 1.20032E-06
24758 43 Q/E 70 rs1015935551 0.4753 None gnomAD-3.1.2 6.58E-06
24758 43 Q/E 70 rs1015935551 0.4753 None gnomAD-4.0.0 6.57592E-06
24758 43 Q/H 70 rs1464894688 0.4753 None gnomAD-2.1.1 8.05E-06
24758 43 Q/H 70 rs1464894688 0.4753 None gnomAD-4.0.0 6.1588E-06
24759 44 T/I 73 rs1421105301 0.3323 None gnomAD-2.1.1 4.03E-06
24759 44 T/I 73 rs1421105301 0.3323 None gnomAD-4.0.0 1.59175E-06
24760 45 T/S 109 rs762222770 1.0059 None gnomAD-4.0.0 4.77514E-06
24761 46 R/T 115 rs1708301817 0.2480 None gnomAD-4.0.0 2.0529E-06
24763 48 N/K 122 rs749832389 0.3244 None gnomAD-2.1.1 4.03E-06
24763 48 N/K 122 rs749832389 0.3244 None gnomAD-4.0.0 1.59171E-06
24764 49 A/E 123 None 0.1921 None gnomAD-4.0.0 1.59172E-06
24765 50 E/D 125 rs756519457 0.6467 None gnomAD-2.1.1 8.05E-06
24765 50 E/D 125 rs756519457 0.6467 None gnomAD-3.1.2 1.32E-05
24765 50 E/D 125 rs756519457 0.6467 None gnomAD-4.0.0 3.84453E-06
24765 50 E/G 125 rs963867892 0.6467 None gnomAD-4.0.0 6.00161E-06
24766 51 S/C 127 None 0.4078 None gnomAD-4.0.0 2.40064E-06
24767 52 T/A 130 None 0.4914 None gnomAD-4.0.0 1.5917E-06
24769 54 N/D 134 rs372787601 0.5451 None gnomAD-2.1.1 8.05E-05
24769 54 N/D 134 rs372787601 0.5451 None gnomAD-3.1.2 5.92E-05
24769 54 N/D 134 rs372787601 0.5451 None gnomAD-4.0.0 6.13541E-05
24769 54 N/S 134 rs1032887625 0.5451 None gnomAD-2.1.1 8.06E-06
24769 54 N/S 134 rs1032887625 0.5451 None gnomAD-3.1.2 6.57E-06
24769 54 N/S 134 rs1032887625 0.5451 None gnomAD-4.0.0 2.47915E-06
24775 60 I/V 140 rs766089174 0.1067 None gnomAD-2.1.1 4.03E-06
24775 60 I/V 140 rs766089174 0.1067 None gnomAD-4.0.0 9.58031E-06
24776 61 K/R 141 rs530190665 0.4985 None gnomAD-2.1.1 2.42E-05
24776 61 K/R 141 rs530190665 0.4985 None gnomAD-3.1.2 6.57E-06
24776 61 K/R 141 rs530190665 0.4985 None 1000 genomes 1.99681E-04
24776 61 K/R 141 rs530190665 0.4985 None gnomAD-4.0.0 7.43707E-06
24777 62 D/G 143 None 0.6740 None gnomAD-4.0.0 1.59276E-06
24778 63 A/P 144 rs761619474 0.1044 None gnomAD-4.0.0 6.84363E-07
24778 63 A/S 144 None 0.1044 None gnomAD-4.0.0 1.36873E-06
24778 63 A/T 144 rs761619474 0.1044 None gnomAD-2.1.1 2.02E-05
24778 63 A/T 144 rs761619474 0.1044 None gnomAD-3.1.2 6.58E-06
24778 63 A/T 144 rs761619474 0.1044 None gnomAD-4.0.0 1.48769E-05
24778 63 A/V 144 rs1708284280 0.1044 None gnomAD-3.1.2 6.58E-06
24778 63 A/V 144 rs1708284280 0.1044 None gnomAD-4.0.0 2.56345E-06
24780 65 R/Q 146 rs776673912 0.7146 None gnomAD-2.1.1 1.61E-05
24780 65 R/Q 146 rs776673912 0.7146 None gnomAD-3.1.2 6.58E-06
24780 65 R/Q 146 rs776673912 0.7146 None gnomAD-4.0.0 8.67764E-06
24781 66 E/A 148 None 0.4813 None gnomAD-4.0.0 1.59184E-06
24781 66 E/D 148 None 0.4813 None gnomAD-4.0.0 1.36864E-06
24782 67 D/E 149 rs1463579400 0.1582 None gnomAD-3.1.2 1.32E-05
24782 67 D/E 149 rs1463579400 0.1582 None gnomAD-4.0.0 5.1274E-06
24782 67 D/G 149 rs1708279198 0.1582 None gnomAD-3.1.2 6.58E-06
24782 67 D/G 149 rs1708279198 0.1582 None gnomAD-4.0.0 6.57583E-06
24784 69 G/D 152 None 0.1890 None gnomAD-4.0.0 4.77613E-06
24787 72 V/E 155 None 0.2526 None gnomAD-4.0.0 1.20032E-06
24789 74 K/E 157 rs374382352 0.2610 None gnomAD-2.1.1 4.03E-06
24791 76 T/I 159 rs1055906361 0.3490 None gnomAD-3.1.2 6.58E-06
24791 76 T/I 159 rs1055906361 0.3490 None gnomAD-4.0.0 3.84537E-06
24791 76 T/S 159 rs1055906361 0.3490 None gnomAD-2.1.1 4.03E-06
24791 76 T/S 159 rs1055906361 0.3490 None gnomAD-3.1.2 6.58E-06
24791 76 T/S 159 rs1055906361 0.3490 None gnomAD-4.0.0 3.84537E-06
24793 78 S/L 162 rs766741890 0.7518 None gnomAD-2.1.1 3.23E-05
24793 78 S/L 162 rs766741890 0.7518 None gnomAD-3.1.2 1.97E-05
24793 78 S/L 162 rs766741890 0.7518 None gnomAD-4.0.0 1.79762E-05
24794 79 A/P 163 None 0.6466 None gnomAD-4.0.0 6.84391E-07
24794 79 A/S 163 None 0.6466 None gnomAD-4.0.0 6.84391E-07
24794 79 A/V 163 None 0.6466 None gnomAD-4.0.0 4.80129E-06
24795 80 G/D 164 rs1708265483 0.2912 None gnomAD-3.1.2 6.58E-06
24795 80 G/D 164 rs1708265483 0.2912 None gnomAD-4.0.0 6.57661E-06
24795 80 G/S 164 None 0.2912 None gnomAD-4.0.0 1.59205E-06
24796 81 E/D 165 None 0.4800 None gnomAD-4.0.0 1.20032E-06
24796 81 E/Q 165 None 0.4800 None gnomAD-4.0.0 1.20032E-06
24797 82 A/G 166 None 0.1416 None gnomAD-4.0.0 1.36869E-06
24797 82 A/S 166 None 0.1416 None gnomAD-4.0.0 1.20032E-06
24798 83 I/T 168 rs771082157 0.4099 None gnomAD-2.1.1 7.16E-06
24798 83 I/T 168 rs771082157 0.4099 None gnomAD-3.1.2 1.32E-05
24798 83 I/T 168 rs771082157 0.4099 None gnomAD-4.0.0 6.40827E-06
24802 87 N/H 173 None 0.3539 None gnomAD-4.0.0 1.5919E-06
24802 87 N/Y 173 rs1178547441 0.3539 None gnomAD-2.1.1 4.03E-06
24802 87 N/Y 173 rs1178547441 0.3539 None gnomAD-4.0.0 1.5919E-06
24803 88 V/A 174 None 0.1314 None gnomAD-4.0.0 1.20032E-06
24803 88 V/I 174 None 0.1314 None gnomAD-4.0.0 1.59193E-06
24804 89 I/T 175 None 0.3731 None gnomAD-4.0.0 1.36863E-06
24804 89 I/V 175 rs544547448 0.3731 None gnomAD-2.1.1 7.16E-06
24804 89 I/V 175 rs544547448 0.3731 None gnomAD-3.1.2 1.31E-05
24804 89 I/V 175 rs544547448 0.3731 None 1000 genomes 1.99681E-04
24804 89 I/V 175 rs544547448 0.3731 None gnomAD-4.0.0 6.56935E-06
24805 90 V/F 177 None 0.2216 None gnomAD-4.0.0 4.79029E-06
24805 90 V/G 177 rs1205583456 0.2216 None gnomAD-2.1.1 4.03E-06
24805 90 V/I 177 rs371306826 0.2216 None gnomAD-2.1.1 5.37E-05
24805 90 V/I 177 rs371306826 0.2216 None gnomAD-3.1.2 1.97E-05
24805 90 V/I 177 rs371306826 0.2216 None gnomAD-4.0.0 2.91331E-05