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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3660 1 P/A 1 None 0.1002 None gnomAD-4.0.0 6.84229E-07
3660 1 P/S 1 rs375986676 0.1002 None gnomAD-2.1.1 8.04E-06
3660 1 P/S 1 rs375986676 0.1002 None gnomAD-4.0.0 3.42115E-06
3661 2 K/E 2 rs749398811 0.7865 None gnomAD-2.1.1 4.02E-06
3661 2 K/N 2 rs368025093 0.7865 None gnomAD-3.1.2 6.57E-06
3661 2 K/N 2 rs368025093 0.7865 None gnomAD-4.0.0 3.0444E-06
3661 2 K/T 2 rs2087010356 0.7865 None gnomAD-4.0.0 1.20032E-06
3663 4 F/L 4 rs777956268 0.8043 None gnomAD-2.1.1 8.04E-06
3663 4 F/L 4 rs777956268 0.8043 None gnomAD-4.0.0 1.59129E-05
3665 6 H/P 7 None 0.6250 None gnomAD-4.0.0 3.18252E-06
3666 7 L/P 8 rs2087001546 0.1182 None gnomAD-3.1.2 6.57E-06
3666 7 L/P 8 rs2087001546 0.1182 None gnomAD-4.0.0 6.5697E-06
3667 8 Q/L 9 rs770140533 0.7127 None gnomAD-2.1.1 2.81E-05
3667 8 Q/L 9 rs770140533 0.7127 None gnomAD-3.1.2 1.97E-05
3667 8 Q/L 9 rs770140533 0.7127 None gnomAD-4.0.0 3.45871E-05
3668 9 D/H 11 rs2086998453 0.5251 None gnomAD-4.0.0 1.59133E-06
3668 9 D/V 11 None 0.5251 None gnomAD-4.0.0 6.84217E-07
3669 10 V/A 13 None 0.1464 None gnomAD-4.0.0 1.59131E-06
3669 10 V/F 13 rs748260785 0.1464 None gnomAD-2.1.1 3.18E-05
3669 10 V/F 13 rs748260785 0.1464 None gnomAD-3.1.2 6.57E-06
3669 10 V/F 13 rs748260785 0.1464 None gnomAD-4.0.0 1.2394E-06
3669 10 V/I 13 rs748260785 0.1464 None gnomAD-2.1.1 1.21E-05
3669 10 V/I 13 rs748260785 0.1464 None gnomAD-3.1.2 3.29E-05
3669 10 V/I 13 rs748260785 0.1464 None gnomAD-4.0.0 3.34613E-05
3670 11 T/P 14 rs794729589 0.6261 None gnomAD-4.0.0 7.52639E-06
3670 11 T/S 14 rs794729589 0.6261 None gnomAD-2.1.1 4.02E-06
3670 11 T/S 14 rs794729589 0.6261 None gnomAD-4.0.0 6.84217E-07
3671 12 V/I 16 None 0.2036 None gnomAD-4.0.0 1.20032E-06
3672 13 K/Q 18 rs781663025 0.4638 None gnomAD-2.1.1 4.02E-06
3672 13 K/Q 18 rs781663025 0.4638 None gnomAD-4.0.0 1.59132E-06
3673 14 C/Y 23 None 0.3333 None gnomAD-4.0.0 2.40066E-06
3674 15 G/S 24 rs752146394 0.3073 None gnomAD-2.1.1 3.22E-05
3674 15 G/S 24 rs752146394 0.3073 None gnomAD-3.1.2 1.31E-05
3674 15 G/S 24 rs752146394 0.3073 None gnomAD-4.0.0 3.96626E-05
3675 16 D/E 25 rs1046292255 0.3093 None gnomAD-4.0.0 1.59135E-06
3676 17 T/M 26 rs1437975298 0.5086 None gnomAD-2.1.1 1.21E-05
3676 17 T/M 26 rs1437975298 0.5086 None gnomAD-3.1.2 1.31E-05
3676 17 T/M 26 rs1437975298 0.5086 None gnomAD-4.0.0 2.5408E-05
3676 17 T/S 26 rs780517993 0.5086 None gnomAD-2.1.1 4.02E-06
3677 18 A/P 28 None 0.1064 None gnomAD-4.0.0 6.84237E-07
3677 18 A/T 28 rs1205546695 0.1064 None gnomAD-4.0.0 6.84237E-07
3678 19 Q/E 29 rs552438291 0.4246 None gnomAD-2.1.1 8.04E-06
3678 19 Q/E 29 rs552438291 0.4246 None gnomAD-3.1.2 2.63E-05
3678 19 Q/E 29 rs552438291 0.4246 None gnomAD-4.0.0 1.28111E-05
3678 19 Q/R 29 None 0.4246 None gnomAD-4.0.0 6.84225E-07
3681 22 C/F 33 None 0.0747 None gnomAD-4.0.0 6.84218E-07
3681 22 C/Y 33 None 0.0747 None gnomAD-4.0.0 1.36844E-06
3682 23 V/G 34 rs2086971533 0.1215 None gnomAD-4.0.0 6.84215E-06
3683 24 L/S 35 rs2154334861 0.0884 None gnomAD-4.0.0 1.59133E-06
3685 26 D/G 40 None 0.2089 None gnomAD-4.0.0 2.73687E-06
3686 27 D/Y 41 rs548665458 0.7164 None gnomAD-2.1.1 4.02E-06
3686 27 D/Y 41 rs548665458 0.7164 None gnomAD-4.0.0 1.59131E-06
3687 28 S/F 42 None 0.4549 None gnomAD-4.0.0 1.20032E-06
3687 28 S/T 42 None 0.4549 None gnomAD-4.0.0 1.20032E-06
3688 29 F/S 43 rs377296133 0.7574 None gnomAD-2.1.1 5.71E-05
3688 29 F/S 43 rs377296133 0.7574 None gnomAD-3.1.2 4.6E-05
3688 29 F/S 43 rs377296133 0.7574 None gnomAD-4.0.0 2.29288E-05
3689 30 I/T 44 rs527924868 0.0915 None gnomAD-2.1.1 1.49997E-04
3689 30 I/T 44 rs527924868 0.0915 None gnomAD-3.1.2 1.11725E-04
3689 30 I/T 44 rs527924868 0.0915 None 1000 genomes 7.98722E-04
3689 30 I/T 44 rs527924868 0.0915 None gnomAD-4.0.0 9.54271E-05
3689 30 I/V 44 rs1299991139 0.0915 None gnomAD-4.0.0 1.59132E-06
3690 31 D/V 45 rs1574368049 0.7389 None gnomAD-4.0.0 1.20032E-06
3690 31 D/Y 45 rs972676424 0.7389 None gnomAD-4.0.0 1.20032E-06
3691 32 V/I 46 rs1331719489 0.2657 None gnomAD-2.1.1 4.02E-06
3691 32 V/I 46 rs1331719489 0.2657 None gnomAD-4.0.0 1.59134E-06
3692 33 T/I 47 rs767415803 0.4383 None gnomAD-2.1.1 4.02E-06
3692 33 T/I 47 rs767415803 0.4383 None gnomAD-4.0.0 1.71055E-05
3692 33 T/N 47 rs767415803 0.4383 None gnomAD-2.1.1 8.04E-06
3692 33 T/N 47 rs767415803 0.4383 None gnomAD-4.0.0 6.15799E-06
3693 34 W/C 48 rs1418383174 0.1403 None gnomAD-2.1.1 4.02E-06
3693 34 W/C 48 rs1418383174 0.1403 None gnomAD-4.0.0 4.10529E-06
3695 36 H/Y 50 rs2086951043 0.3186 None gnomAD-4.0.0 2.73687E-06
3696 37 E/K 51 rs184205694 0.5879 None gnomAD-2.1.1 1.21E-05
3696 37 E/K 51 rs184205694 0.5879 None gnomAD-3.1.2 3.29E-05
3696 37 E/K 51 rs184205694 0.5879 None 1000 genomes 3.99361E-04
3696 37 E/K 51 rs184205694 0.5879 None gnomAD-4.0.0 1.17735E-05
3697 38 G/D 52 rs1266849106 0.6362 None gnomAD-4.0.0 1.20032E-06
3697 38 G/R 52 rs2086945307 0.6362 None gnomAD-3.1.2 6.58E-06
3697 38 G/R 52 rs2086945307 0.6362 None gnomAD-4.0.0 2.56242E-06
3697 38 G/S 52 None 0.6362 None gnomAD-4.0.0 1.59126E-06
3698 39 A/T 55 None 0.2486 None gnomAD-4.0.0 1.20032E-06
3700 41 I/M 58 None 0.1611 None gnomAD-4.0.0 1.59117E-06
3700 41 I/T 58 rs931429979 0.1611 None gnomAD-2.1.1 4.02E-06
3700 41 I/T 58 rs931429979 0.1611 None gnomAD-4.0.0 2.0526E-06
3701 42 E/K 59 rs1306774376 0.7446 None gnomAD-2.1.1 3.18E-05
3701 42 E/K 59 rs1306774376 0.7446 None gnomAD-3.1.2 6.57E-06
3701 42 E/K 59 rs1306774376 0.7446 None gnomAD-4.0.0 2.56195E-06
3702 43 E/G 70 rs2086938615 0.4973 None gnomAD-4.0.0 1.20032E-06
3703 44 S/F 73 rs773438970 0.2597 None gnomAD-4.0.0 6.84195E-07
3703 44 S/Y 73 rs773438970 0.2597 None gnomAD-2.1.1 4.02E-06
3703 44 S/Y 73 rs773438970 0.2597 None gnomAD-4.0.0 1.36839E-06
3704 45 E/D 111 None 0.9126 None gnomAD-4.0.0 8.40225E-06
3704 45 E/K 111 rs769980091 0.9126 None gnomAD-2.1.1 1.21E-05
3704 45 E/K 111 rs769980091 0.9126 None gnomAD-4.0.0 1.0263E-05
3705 46 R/K 115 rs2086934731 0.6689 None gnomAD-4.0.0 6.84195E-07
3705 46 R/T 115 None 0.6689 None gnomAD-4.0.0 6.84195E-07
3706 47 L/P 121 rs748468365 0.1833 None gnomAD-2.1.1 1.21E-05
3706 47 L/P 121 rs748468365 0.1833 None gnomAD-3.1.2 1.97E-05
3706 47 L/P 121 rs748468365 0.1833 None gnomAD-4.0.0 6.19671E-06
3707 48 K/R 122 None 0.4450 None gnomAD-4.0.0 1.20032E-06
3708 49 Q/E 123 rs578181523 0.3043 None gnomAD-4.0.0 4.10517E-06
3708 49 Q/L 123 rs769115076 0.3043 None gnomAD-2.1.1 1.21E-05
3708 49 Q/L 123 rs769115076 0.3043 None gnomAD-4.0.0 3.42098E-06
3709 50 S/L 125 None 0.4251 None gnomAD-4.0.0 1.59123E-06
3711 52 N/S 130 None 0.5959 None gnomAD-4.0.0 1.20032E-06
3712 53 G/E 131 None 0.2243 None gnomAD-4.0.0 3.1824E-06
3712 53 G/R 131 None 0.2243 None gnomAD-4.0.0 6.842E-07
3713 54 N/H 134 rs2086928931 0.2822 None gnomAD-3.1.2 6.57E-06
3713 54 N/H 134 rs2086928931 0.2822 None gnomAD-4.0.0 6.57056E-06
3714 55 I/T 135 None 0.2633 None gnomAD-4.0.0 1.59118E-06
3715 56 Q/H 136 None 0.0982 None gnomAD-4.0.0 1.20033E-06
3715 56 Q/P 136 None 0.0982 None gnomAD-4.0.0 1.59117E-06
3715 56 Q/R 136 rs912850872 0.0982 None gnomAD-3.1.2 6.57E-06
3715 56 Q/R 136 rs912850872 0.0982 None gnomAD-4.0.0 6.56978E-06
3718 59 T/A 139 rs747357550 0.1342 None gnomAD-2.1.1 4.02E-06
3718 59 T/A 139 rs747357550 0.1342 None gnomAD-4.0.0 1.59118E-06
3719 60 I/L 140 rs758911977 0.1005 None gnomAD-4.0.0 6.84188E-07
3719 60 I/V 140 rs758911977 0.1005 None gnomAD-2.1.1 1.07E-05
3719 60 I/V 140 rs758911977 0.1005 None gnomAD-3.1.2 6.57E-06
3719 60 I/V 140 rs758911977 0.1005 None gnomAD-4.0.0 1.85897E-06
3720 61 C/S 141 rs1356555138 0.3237 None gnomAD-2.1.1 4.02E-06
3720 61 C/S 141 rs1356555138 0.3237 None gnomAD-4.0.0 1.36838E-06
3720 61 C/W 141 None 0.3237 None gnomAD-4.0.0 2.73683E-06
3721 62 N/K 143 rs1216349904 0.1554 None gnomAD-4.0.0 6.842E-07
3721 62 N/S 143 rs2086919348 0.1554 None gnomAD-3.1.2 6.57E-06
3721 62 N/S 143 rs2086919348 0.1554 None gnomAD-4.0.0 2.02983E-06
3725 66 V/I 148 rs1398496347 0.6684 None gnomAD-2.1.1 8.04E-06
3725 66 V/I 148 rs1398496347 0.6684 None gnomAD-4.0.0 7.52639E-06
3726 67 D/A 149 None 0.2118 None gnomAD-4.0.0 1.59118E-06
3726 67 D/G 149 rs548947930 0.2118 None gnomAD-2.1.1 4.02E-06
3726 67 D/G 149 rs548947930 0.2118 None gnomAD-3.1.2 6.57E-06
3726 67 D/G 149 rs548947930 0.2118 None gnomAD-4.0.0 5.12361E-06
3726 67 D/V 149 rs548947930 0.2118 None gnomAD-2.1.1 4.02E-06
3726 67 D/V 149 rs548947930 0.2118 None gnomAD-3.1.2 6.57E-06
3726 67 D/V 149 rs548947930 0.2118 None 1000 genomes 1.99681E-04
3726 67 D/V 149 rs548947930 0.2118 None gnomAD-4.0.0 6.56366E-06
3727 68 Q/E 151 rs1561082102 0.4819 None gnomAD-2.1.1 4.02E-06
3727 68 Q/E 151 rs1561082102 0.4819 None gnomAD-4.0.0 1.59122E-06
3728 69 G/R 152 None 0.2005 None gnomAD-4.0.0 1.59119E-06
3729 70 L/P 153 None 0.3602 None gnomAD-4.0.0 1.59119E-06
3730 71 Y/C 154 None 0.1633 None gnomAD-4.0.0 1.20043E-06
3730 71 Y/H 154 None 0.1633 None gnomAD-4.0.0 3.60122E-06
3731 72 S/G 155 None 0.2016 None gnomAD-4.0.0 1.59122E-06
3731 72 S/N 155 None 0.2016 None gnomAD-4.0.0 1.59126E-06
3731 72 S/R 155 None 0.2016 None gnomAD-4.0.0 1.59124E-06
3732 73 C/R 156 None 0.0823 None gnomAD-4.0.0 1.20033E-06
3733 74 I/T 157 rs1263923996 0.2836 None gnomAD-3.1.2 6.57E-06
3733 74 I/T 157 rs1263923996 0.2836 None gnomAD-4.0.0 6.56849E-06
3733 74 I/V 157 rs767095590 0.2836 None gnomAD-2.1.1 2.41E-05
3733 74 I/V 157 rs767095590 0.2836 None gnomAD-3.1.2 6.57E-06
3733 74 I/V 157 rs767095590 0.2836 None gnomAD-4.0.0 4.95728E-06
3734 75 V/A 158 rs1488086911 0.0716 None gnomAD-4.0.0 1.59129E-06
3735 76 H/D 159 None 0.3247 None gnomAD-4.0.0 1.59136E-06
3735 76 H/Q 159 rs1483940165 0.3247 None gnomAD-2.1.1 3.18E-05
3735 76 H/Q 159 rs1483940165 0.3247 None gnomAD-3.1.2 6.57E-06
3735 76 H/Q 159 rs1483940165 0.3247 None gnomAD-4.0.0 6.56953E-06
3736 77 N/S 161 rs759184770 0.1005 None gnomAD-2.1.1 4.02E-06
3736 77 N/S 161 rs759184770 0.1005 None gnomAD-4.0.0 3.42125E-06
3737 78 D/N 162 rs1243794346 1.0447 None gnomAD-2.1.1 4.02E-06
3737 78 D/N 162 rs1243794346 1.0447 None gnomAD-4.0.0 1.59157E-06
3738 79 C/F 163 rs1216398376 0.7153 None gnomAD-2.1.1 4.02E-06
3738 79 C/F 163 rs1216398376 0.7153 None gnomAD-4.0.0 2.05309E-06
3738 79 C/Y 163 None 0.7153 None gnomAD-4.0.0 2.05309E-06
3739 80 G/E 164 rs371678138 0.1973 None gnomAD-2.1.1 8.05E-06
3739 80 G/E 164 rs371678138 0.1973 None gnomAD-4.0.0 4.10651E-06
3739 80 G/R 164 None 0.1973 None gnomAD-4.0.0 6.84404E-07
3740 81 E/K 165 rs763042113 0.4431 None gnomAD-2.1.1 2.82E-05
3740 81 E/K 165 rs763042113 0.4431 None gnomAD-4.0.0 1.27404E-05
3741 82 R/K 166 rs773277489 0.4221 None gnomAD-2.1.1 8.05E-06
3741 82 R/K 166 rs773277489 0.4221 None gnomAD-4.0.0 2.05456E-06
3742 83 T/A 168 None 0.5954 None gnomAD-4.0.0 1.20046E-06
3742 83 T/I 168 None 0.5954 None gnomAD-4.0.0 6.84892E-07
3743 84 T/A 169 rs769955914 0.2039 None gnomAD-2.1.1 4.03E-06
3743 84 T/A 169 rs769955914 0.2039 None gnomAD-4.0.0 1.59481E-06
3743 84 T/M 169 rs368071705 0.2039 None gnomAD-2.1.1 2.86E-05
3743 84 T/M 169 rs368071705 0.2039 None gnomAD-3.1.2 1.97E-05
3743 84 T/M 169 rs368071705 0.2039 None gnomAD-4.0.0 1.9851E-05
3743 84 T/R 169 None 0.2039 None gnomAD-4.0.0 6.85015E-07
3744 85 S/L 171 rs794729387 0.2882 None gnomAD-4.0.0 6.85115E-07
3747 88 L/V 174 None 0.1014 None gnomAD-4.0.0 6.85796E-07
3748 89 S/G 175 rs2086888986 0.3382 None gnomAD-4.0.0 6.86223E-07
3749 90 V/A 178 None 0.6230 None gnomAD-4.0.0 1.37748E-06