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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27676 1 E/K 1 rs1424922146 0.7440 None gnomAD-3.1.2 6.57E-06
27676 1 E/K 1 rs1424922146 0.7440 None gnomAD-4.0.0 6.57307E-06
27676 1 E/Q 1 rs1424922146 0.7440 None gnomAD-4.0.0 3.60097E-06
27676 1 E/V 1 rs1282696852 0.7440 None gnomAD-3.1.2 6.58E-06
27676 1 E/V 1 rs1282696852 0.7440 None gnomAD-4.0.0 6.57523E-06
27677 2 L/I 2 rs1704290061 0.3423 None gnomAD-3.1.2 6.57E-06
27677 2 L/I 2 rs1704290061 0.3423 None gnomAD-4.0.0 6.57393E-06
27678 3 D/N 3 rs781128731 0.7337 None gnomAD-2.1.1 3.62E-05
27678 3 D/N 3 rs781128731 0.7337 None gnomAD-4.0.0 1.36846E-05
27679 4 A/T 4 rs1704286522 0.5011 None gnomAD-4.0.0 1.59137E-06
27680 5 D/A 5 None 0.8050 None gnomAD-4.0.0 1.59136E-06
27680 5 D/E 5 rs754885118 0.8050 None gnomAD-2.1.1 7.85E-05
27680 5 D/E 5 rs754885118 0.8050 None gnomAD-3.1.2 1.31E-05
27680 5 D/E 5 rs754885118 0.8050 None gnomAD-4.0.0 6.81694E-06
27680 5 D/G 5 rs1431056112 0.8050 None gnomAD-2.1.1 4.02E-06
27680 5 D/G 5 rs1431056112 0.8050 None gnomAD-4.0.0 6.36543E-06
27683 8 K/R 9 rs1198736450 0.6673 None gnomAD-2.1.1 4.02E-06
27683 8 K/R 9 rs1198736450 0.6673 None gnomAD-4.0.0 1.59135E-06
27684 9 V/G 11 None 0.4598 None gnomAD-4.0.0 3.60097E-06
27684 9 V/L 11 rs779966248 0.4598 None gnomAD-2.1.1 4.02E-06
27686 11 V/I 14 rs56309296 0.4193 None gnomAD-2.1.1 5.99809E-03
27686 11 V/I 14 rs56309296 0.4193 None gnomAD-3.1.2 1.80159E-02
27686 11 V/I 14 rs56309296 0.4193 None 1000 genomes 1.61741E-02
27686 11 V/I 14 rs56309296 0.4193 None gnomAD-4.0.0 3.41703E-03
27687 12 L/V 16 None 0.2659 None gnomAD-4.0.0 6.84239E-07
27688 13 R/C 18 rs757441189 0.7139 None gnomAD-2.1.1 4.02E-06
27688 13 R/C 18 rs757441189 0.7139 None gnomAD-3.1.2 1.32E-05
27688 13 R/C 18 rs757441189 0.7139 None gnomAD-4.0.0 4.77432E-06
27688 13 R/H 18 rs185002960 0.7139 None gnomAD-2.1.1 3.72487E-03
27688 13 R/H 18 rs185002960 0.7139 None gnomAD-3.1.2 3.05147E-03
27688 13 R/H 18 rs185002960 0.7139 None 1000 genomes 1.39776E-03
27688 13 R/H 18 rs185002960 0.7139 None gnomAD-4.0.0 1.95397E-03
27688 13 R/L 18 None 0.7139 None gnomAD-4.0.0 6.84244E-07
27688 13 R/P 18 rs185002960 0.7139 None gnomAD-2.1.1 4.02E-06
27688 13 R/P 18 rs185002960 0.7139 None gnomAD-3.1.2 2.63E-05
27688 13 R/P 18 rs185002960 0.7139 None gnomAD-4.0.0 4.33802E-06
27689 14 A/S 23 rs761181487 0.3636 None gnomAD-3.1.2 6.58E-06
27689 14 A/S 23 rs761181487 0.3636 None gnomAD-4.0.0 1.85925E-06
27689 14 A/T 23 None 0.3636 None gnomAD-2.1.1 4.02E-06
27689 14 A/T 23 None 0.3636 None gnomAD-4.0.0 6.84243E-07
27689 14 A/V 23 None 0.3636 None gnomAD-4.0.0 1.59143E-06
27693 18 L/V 28 rs1329220257 0.1409 None gnomAD-2.1.1 4.02E-06
27693 18 L/V 28 rs1329220257 0.1409 None gnomAD-4.0.0 1.59144E-06
27694 19 R/C 29 rs192360370 0.4687 None gnomAD-2.1.1 3.03305E-04
27694 19 R/C 29 rs192360370 0.4687 None gnomAD-3.1.2 1.2498E-04
27694 19 R/C 29 rs192360370 0.4687 None 1000 genomes 5.99042E-04
27694 19 R/C 29 rs192360370 0.4687 None gnomAD-4.0.0 2.28682E-04
27694 19 R/H 29 rs775499341 0.4687 None gnomAD-2.1.1 1.71307E-04
27694 19 R/H 29 rs775499341 0.4687 None gnomAD-3.1.2 5.92E-05
27694 19 R/H 29 rs775499341 0.4687 None gnomAD-4.0.0 5.20616E-05
27695 20 L/I 30 None 0.1384 None gnomAD-4.0.0 1.20032E-06
27695 20 L/S 30 rs772893209 0.1384 None gnomAD-2.1.1 4.02E-06
27695 20 L/S 30 rs772893209 0.1384 None gnomAD-4.0.0 5.47399E-06
27696 21 F/C 31 rs769398545 0.3618 None gnomAD-2.1.1 8.04E-06
27696 21 F/C 31 rs769398545 0.3618 None gnomAD-4.0.0 4.1055E-06
27696 21 F/S 31 rs769398545 0.3618 None gnomAD-2.1.1 4.02E-06
27696 21 F/S 31 rs769398545 0.3618 None gnomAD-4.0.0 6.8425E-07
27697 22 V/A 33 None 0.1373 None gnomAD-4.0.0 1.59146E-06
27698 23 T/A 34 None 0.3450 None gnomAD-4.0.0 1.20032E-06
27699 24 I/N 35 None 0.1372 None gnomAD-4.0.0 6.84242E-07
27699 24 I/T 35 rs1411163896 0.1372 None gnomAD-2.1.1 4.02E-06
27699 24 I/T 35 rs1411163896 0.1372 None gnomAD-3.1.2 6.58E-06
27699 24 I/T 35 rs1411163896 0.1372 None gnomAD-4.0.0 1.85927E-06
27699 24 I/V 35 None 0.1372 None gnomAD-4.0.0 1.20032E-06
27701 26 G/S 40 rs1559314882 0.3744 None gnomAD-2.1.1 4.02E-06
27701 26 G/S 40 rs1559314882 0.3744 None gnomAD-4.0.0 4.77453E-06
27702 27 R/L 41 None 0.9049 None gnomAD-4.0.0 1.36855E-06
27702 27 R/Q 41 rs776136653 0.9049 None gnomAD-2.1.1 2.01E-05
27702 27 R/Q 41 rs776136653 0.9049 None gnomAD-3.1.2 6.58E-06
27702 27 R/Q 41 rs776136653 0.9049 None gnomAD-4.0.0 6.19771E-06
27703 28 P/Q 42 None 0.4930 None gnomAD-4.0.0 1.59151E-06
27706 31 E/K 45 rs72648217 0.8135 None gnomAD-2.1.1 2.01E-05
27706 31 E/K 45 rs72648217 0.8135 None gnomAD-3.1.2 2.63E-05
27706 31 E/K 45 rs72648217 0.8135 None 1000 genomes 1.99681E-04
27706 31 E/K 45 rs72648217 0.8135 None gnomAD-4.0.0 2.29294E-05
27707 32 V/G 46 rs771940719 0.2828 None gnomAD-2.1.1 4.02E-06
27707 32 V/G 46 rs771940719 0.2828 None gnomAD-4.0.0 1.5915E-06
27707 32 V/I 46 None 0.2828 None gnomAD-4.0.0 1.59148E-06
27708 33 K/Q 47 None 0.5266 None gnomAD-4.0.0 1.20032E-06
27708 33 K/T 47 None 0.5266 None gnomAD-4.0.0 1.20032E-06
27709 34 W/C 48 None 0.1970 None gnomAD-4.0.0 1.59151E-06
27710 35 E/K 49 rs1296454749 0.3870 None gnomAD-4.0.0 4.78976E-06
27711 36 K/E 50 rs377621382 0.1575 None gnomAD-4.0.0 1.59148E-06
27711 36 K/T 50 rs1249941262 0.1575 None gnomAD-2.1.1 4.02E-06
27711 36 K/T 50 rs1249941262 0.1575 None gnomAD-4.0.0 1.59176E-06
27712 37 A/T 51 None 0.4050 None gnomAD-4.0.0 1.59155E-06
27712 37 A/V 51 None 0.4050 None gnomAD-4.0.0 1.20032E-06
27714 39 G/D 55 None 0.4195 None gnomAD-4.0.0 2.40064E-06
27715 40 I/S 56 None 1.0368 None gnomAD-4.0.0 1.20032E-06
27717 42 T/S 69 rs757498214 0.3216 None gnomAD-2.1.1 3.18E-05
27717 42 T/S 69 rs757498214 0.3216 None gnomAD-3.1.2 1.97E-05
27717 42 T/S 69 rs757498214 0.3216 None gnomAD-4.0.0 1.97161E-05
27718 43 D/E 70 rs1198738101 0.8504 None gnomAD-2.1.1 8.05E-06
27718 43 D/E 70 rs1198738101 0.8504 None gnomAD-4.0.0 3.4213E-06
27718 43 D/N 70 None 0.8504 None gnomAD-4.0.0 1.59152E-06
27719 44 R/G 73 rs929458467 0.2945 None gnomAD-4.0.0 2.40064E-06
27719 44 R/S 73 rs1342825597 0.2945 None gnomAD-2.1.1 4.03E-06
27719 44 R/S 73 rs1342825597 0.2945 None gnomAD-4.0.0 1.59155E-06
27720 45 A/D 102 rs753972441 0.2000 None gnomAD-2.1.1 4.03E-06
27720 45 A/D 102 rs753972441 0.2000 None gnomAD-4.0.0 6.84259E-07
27720 45 A/S 102 None 0.2000 None gnomAD-4.0.0 1.59151E-06
27720 45 A/V 102 rs753972441 0.2000 None gnomAD-4.0.0 2.05278E-06
27721 46 Q/H 122 None 0.6959 None gnomAD-4.0.0 1.59152E-06
27721 46 Q/L 122 None 0.6959 None gnomAD-4.0.0 1.59152E-06
27722 47 I/M 123 None 0.3433 None gnomAD-4.0.0 1.59152E-06
27722 47 I/R 123 rs794729515 0.3433 None gnomAD-4.0.0 6.84253E-07
27722 47 I/T 123 None 0.3433 None gnomAD-4.0.0 2.73701E-06
27722 47 I/V 123 None 0.3433 None gnomAD-4.0.0 2.40064E-06
27723 48 E/D 125 rs547706181 0.4747 None gnomAD-2.1.1 4.03E-06
27723 48 E/D 125 rs547706181 0.4747 None gnomAD-3.1.2 6.57E-06
27723 48 E/D 125 rs547706181 0.4747 None 1000 genomes 1.99681E-04
27723 48 E/D 125 rs547706181 0.4747 None gnomAD-4.0.0 2.05278E-06
27723 48 E/K 125 None 0.4747 None gnomAD-4.0.0 1.59157E-06
27723 48 E/Q 125 rs1223945642 0.4747 None gnomAD-2.1.1 4.03E-06
27723 48 E/Q 125 rs1223945642 0.4747 None gnomAD-4.0.0 3.18313E-06
27724 49 V/G 127 rs201896662 0.3831 None gnomAD-2.1.1 5.07516E-04
27724 49 V/G 127 rs201896662 0.3831 None gnomAD-3.1.2 5.25928E-04
27724 49 V/G 127 rs201896662 0.3831 None gnomAD-4.0.0 3.34047E-04
27726 51 S/G 131 None 0.5767 None gnomAD-4.0.0 8.89541E-06
27726 51 S/R 131 rs1704233145 0.5767 None gnomAD-3.1.2 6.57E-06
27726 51 S/R 131 rs1704233145 0.5767 None gnomAD-4.0.0 6.57436E-06
27729 54 T/I 136 rs753299607 0.0897 None gnomAD-2.1.1 4.03E-06
27729 54 T/I 136 rs753299607 0.0897 None gnomAD-4.0.0 1.59161E-06
27730 55 M/I 137 rs1229835465 0.2298 None gnomAD-2.1.1 4.03E-06
27730 55 M/I 137 rs1229835465 0.2298 None gnomAD-4.0.0 6.8427E-07
27730 55 M/T 137 None 0.2298 None gnomAD-4.0.0 1.59161E-06
27732 57 V/L 139 None 0.1847 None gnomAD-4.0.0 1.36856E-06
27732 57 V/M 139 rs1332933880 0.1847 None gnomAD-2.1.1 8.05E-06
27732 57 V/M 139 rs1332933880 0.1847 None gnomAD-3.1.2 6.57E-06
27732 57 V/M 139 rs1332933880 0.1847 None gnomAD-4.0.0 1.42547E-05
27733 58 I/F 140 rs1393748586 0.1139 None gnomAD-2.1.1 4.03E-06
27733 58 I/F 140 rs1393748586 0.1139 None gnomAD-4.0.0 1.59169E-06
27733 58 I/L 140 None 0.1139 None gnomAD-4.0.0 1.59169E-06
27733 58 I/T 140 rs759928014 0.1139 None gnomAD-2.1.1 2.01E-05
27733 58 I/T 140 rs759928014 0.1139 None gnomAD-4.0.0 3.48986E-05
27734 59 D/N 141 None 0.5563 None gnomAD-4.0.0 1.59171E-06
27735 60 N/I 143 None 0.6285 None gnomAD-4.0.0 6.8429E-07
27735 60 N/K 143 None 0.6285 None gnomAD-4.0.0 1.20032E-06
27735 60 N/T 143 None 0.6285 None gnomAD-4.0.0 6.8429E-07
27736 61 V/A 144 rs1370518448 0.0861 None gnomAD-3.1.2 6.57E-06
27736 61 V/A 144 rs1370518448 0.0861 None gnomAD-4.0.0 2.56282E-06
27736 61 V/F 144 rs373638788 0.0861 None gnomAD-2.1.1 8.05E-06
27736 61 V/F 144 rs373638788 0.0861 None gnomAD-4.0.0 2.73718E-06
27736 61 V/I 144 rs373638788 0.0861 None gnomAD-2.1.1 3.19E-05
27736 61 V/I 144 rs373638788 0.0861 None gnomAD-3.1.2 6.57E-06
27736 61 V/I 144 rs373638788 0.0861 None gnomAD-4.0.0 6.19775E-06
27736 61 V/L 144 None 0.0861 None gnomAD-4.0.0 1.36859E-06
27737 62 T/A 145 rs764871079 0.2662 None gnomAD-2.1.1 1.61E-05
27737 62 T/A 145 rs764871079 0.2662 None gnomAD-4.0.0 7.95874E-06
27737 62 T/N 145 None 0.2662 None gnomAD-4.0.0 1.59178E-06
27738 63 R/G 146 None 0.6082 None gnomAD-4.0.0 6.84305E-07
27738 63 R/K 146 None 0.6082 None gnomAD-4.0.0 1.59179E-06
27739 64 F/I 148 rs886042186 0.7347 None gnomAD-2.1.1 3.19E-05
27739 64 F/I 148 rs886042186 0.7347 None gnomAD-3.1.2 6.57E-06
27739 64 F/I 148 rs886042186 0.7347 None gnomAD-4.0.0 7.43747E-06
27740 65 D/E 149 rs1364251085 0.1627 None gnomAD-4.0.0 1.59192E-06
27740 65 D/N 149 rs776130801 0.1627 None gnomAD-2.1.1 4.03E-06
27740 65 D/N 149 rs776130801 0.1627 None gnomAD-3.1.2 6.57E-06
27740 65 D/N 149 rs776130801 0.1627 None gnomAD-4.0.0 6.57471E-06
27741 66 S/G 151 rs1368077967 0.2359 None gnomAD-2.1.1 4.03E-06
27741 66 S/G 151 rs1368077967 0.2359 None gnomAD-3.1.2 6.57E-06
27741 66 S/G 151 rs1368077967 0.2359 None gnomAD-4.0.0 5.12601E-06
27741 66 S/N 151 None 0.2359 None gnomAD-4.0.0 1.59189E-06
27741 66 S/R 151 rs1368077967 0.2359 None gnomAD-3.1.2 6.57E-06
27741 66 S/R 151 rs1368077967 0.2359 None gnomAD-4.0.0 6.40751E-06
27743 68 R/L 153 None 0.2695 None gnomAD-4.0.0 6.84351E-07
27743 68 R/Q 153 rs768262273 0.2695 None gnomAD-2.1.1 2.42E-05
27743 68 R/Q 153 rs768262273 0.2695 None gnomAD-3.1.2 6.58E-06
27743 68 R/Q 153 rs768262273 0.2695 None gnomAD-4.0.0 1.30171E-05
27743 68 R/W 153 rs1185542536 0.2695 None gnomAD-2.1.1 8.06E-06
27743 68 R/W 153 rs1185542536 0.2695 None gnomAD-3.1.2 6.58E-06
27743 68 R/W 153 rs1185542536 0.2695 None gnomAD-4.0.0 7.43828E-06
27744 69 Y/H 154 None 0.1387 None gnomAD-4.0.0 1.59196E-06
27745 70 N/S 155 None 0.2209 None gnomAD-4.0.0 1.59207E-06
27746 71 L/V 156 rs1018294368 0.1153 None gnomAD-2.1.1 4.03E-06
27746 71 L/V 156 rs1018294368 0.1153 None gnomAD-3.1.2 6.57E-06
27746 71 L/V 156 rs1018294368 0.1153 None gnomAD-4.0.0 6.57479E-06
27748 73 L/S 158 rs760072489 0.2100 None gnomAD-2.1.1 4.03E-06
27748 73 L/S 158 rs760072489 0.2100 None gnomAD-4.0.0 2.05315E-06
27748 73 L/V 158 None 0.2100 None gnomAD-4.0.0 1.59219E-06
27749 74 E/G 159 None 0.5810 None gnomAD-4.0.0 1.59228E-06
27751 76 N/S 162 rs775527437 0.9502 None gnomAD-2.1.1 8.08E-06
27751 76 N/S 162 rs775527437 0.9502 None gnomAD-4.0.0 4.77742E-06
27752 77 S/C 163 None 0.8385 None gnomAD-4.0.0 1.20032E-06
27752 77 S/G 163 None 0.8385 None gnomAD-4.0.0 6.00161E-06
27752 77 S/R 163 rs1704199409 0.8385 None gnomAD-3.1.2 6.57E-06
27752 77 S/R 163 rs1704199409 0.8385 None gnomAD-4.0.0 6.57324E-06
27753 78 G/C 164 None 0.3634 None gnomAD-4.0.0 1.20032E-06
27753 78 G/V 164 None 0.3634 None gnomAD-4.0.0 2.40064E-06
27754 79 S/F 165 rs1383167179 0.5006 None gnomAD-4.0.0 1.59294E-06
27755 80 K/N 166 None 0.8454 None gnomAD-4.0.0 1.59287E-06
27755 80 K/Q 166 None 0.8454 None gnomAD-4.0.0 1.59297E-06
27756 81 T/I 168 rs745672935 0.4513 None gnomAD-2.1.1 1.22E-05
27756 81 T/I 168 rs745672935 0.4513 None gnomAD-4.0.0 3.42274E-06
27757 82 A/V 169 None 0.3157 None gnomAD-4.0.0 1.20032E-06
27758 83 F/C 171 None 0.4512 None gnomAD-4.0.0 1.20032E-06
27758 83 F/L 171 rs188323108 0.4512 None gnomAD-2.1.1 3.4155E-04
27758 83 F/L 171 rs188323108 0.4512 None gnomAD-3.1.2 7.23E-05
27758 83 F/L 171 rs188323108 0.4512 None 1000 genomes 3.99361E-04
27758 83 F/L 171 rs188323108 0.4512 None gnomAD-4.0.0 6.07534E-05
27758 83 F/S 171 None 0.4512 None gnomAD-4.0.0 1.20032E-06
27759 84 V/I 172 rs749582041 0.1545 None gnomAD-2.1.1 1.08E-05
27759 84 V/I 172 rs749582041 0.1545 None gnomAD-3.1.2 3.29E-05
27759 84 V/I 172 rs749582041 0.1545 None gnomAD-4.0.0 4.96027E-06
27760 85 N/I 173 rs200714263 0.4107 None gnomAD-2.1.1 2.88E-05
27760 85 N/I 173 rs200714263 0.4107 None gnomAD-3.1.2 5.92E-05
27760 85 N/I 173 rs200714263 0.4107 None gnomAD-4.0.0 3.34766E-05
27761 86 V/I 174 rs371788070 0.1205 None gnomAD-2.1.1 1.62027E-04
27761 86 V/I 174 rs371788070 0.1205 None gnomAD-3.1.2 1.90692E-04
27761 86 V/I 174 rs371788070 0.1205 None 1000 genomes 1.99681E-04
27761 86 V/I 174 rs371788070 0.1205 None gnomAD-4.0.0 3.53407E-04
27761 86 V/L 174 rs371788070 0.1205 None gnomAD-2.1.1 8.28E-05
27761 86 V/L 174 rs371788070 0.1205 None gnomAD-3.1.2 5.92E-05
27761 86 V/L 174 rs371788070 0.1205 None gnomAD-4.0.0 1.32692E-04
27762 87 R/T 175 rs562523414 0.5967 None gnomAD-3.1.2 6.58E-06
27762 87 R/T 175 rs562523414 0.5967 None 1000 genomes 1.99681E-04
27762 87 R/T 175 rs562523414 0.5967 None gnomAD-4.0.0 4.0596E-06
27763 88 V/A 177 rs1161650945 0.1594 None gnomAD-2.1.1 4.06E-06
27763 88 V/A 177 rs1161650945 0.1594 None gnomAD-4.0.0 1.59317E-06
27763 88 V/I 177 rs1390356312 0.1594 None gnomAD-2.1.1 4.06E-06
27763 88 V/I 177 rs1390356312 0.1594 None gnomAD-4.0.0 1.36917E-06