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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5919 1 P/A 1 rs780414866 0.2382 None gnomAD-2.1.1 1.24E-05
5919 1 P/A 1 rs780414866 0.2382 None gnomAD-4.0.0 4.86145E-06
5919 1 P/L 1 rs1275881697 0.2382 None gnomAD-4.0.0 3.24051E-06
5919 1 P/S 1 rs780414866 0.2382 None gnomAD-2.1.1 8.28E-06
5919 1 P/S 1 rs780414866 0.2382 None gnomAD-4.0.0 3.24097E-06
5921 3 F/L 3 rs758858348 0.1974 None gnomAD-2.1.1 4.12E-06
5921 3 F/L 3 rs758858348 0.1974 None gnomAD-4.0.0 3.44378E-06
5924 6 K/E 7 None 0.6230 None gnomAD-4.0.0 1.20032E-06
5924 6 K/N 7 rs1336731959 0.6230 None gnomAD-3.1.2 6.58E-06
5924 6 K/N 7 rs1336731959 0.6230 None gnomAD-4.0.0 6.88028E-07
5925 7 L/M 8 rs750909367 0.2231 None gnomAD-4.0.0 6.87957E-07
5925 7 L/V 8 rs750909367 0.2231 None gnomAD-2.1.1 4.1E-06
5925 7 L/V 8 rs750909367 0.2231 None gnomAD-4.0.0 8.94344E-06
5926 8 K/N 9 rs755607488 0.8499 None gnomAD-2.1.1 1.23E-05
5926 8 K/N 9 rs755607488 0.8499 None gnomAD-4.0.0 6.87216E-07
5926 8 K/Q 9 None 0.8499 None gnomAD-4.0.0 1.20032E-06
5927 9 K/Q 11 None 0.6106 None gnomAD-4.0.0 1.20032E-06
5928 10 M/I 13 rs752412937 0.3263 None gnomAD-2.1.1 8.17E-06
5928 10 M/I 13 rs752412937 0.3263 None gnomAD-4.0.0 1.60558E-06
5928 10 M/K 13 rs1337129774 0.3263 None gnomAD-2.1.1 4.08E-06
5928 10 M/K 13 rs1337129774 0.3263 None gnomAD-4.0.0 1.60533E-06
5929 11 D/N 14 None 0.5811 None gnomAD-4.0.0 1.20033E-06
5930 12 S/R 16 None 0.2352 None gnomAD-4.0.0 1.20033E-06
5931 13 I/L 18 None 0.7434 None gnomAD-4.0.0 1.20032E-06
5931 13 I/V 18 rs556014670 0.7434 None gnomAD-2.1.1 4.07E-06
5931 13 I/V 18 rs556014670 0.7434 None gnomAD-3.1.2 6.57E-06
5931 13 I/V 18 rs556014670 0.7434 None 1000 genomes 1.99681E-04
5931 13 I/V 18 rs556014670 0.7434 None gnomAD-4.0.0 6.56513E-06
5932 14 K/T 23 rs879062650 0.6617 None gnomAD-4.0.0 1.59791E-06
5933 15 G/C 24 rs759141033 0.4090 None gnomAD-2.1.1 4.06E-06
5933 15 G/C 24 rs759141033 0.4090 None gnomAD-4.0.0 8.22489E-06
5933 15 G/D 24 rs2080306772 0.4090 None gnomAD-4.0.0 8.40225E-06
5933 15 G/S 24 rs759141033 0.4090 None gnomAD-2.1.1 4.06E-06
5933 15 G/S 24 rs759141033 0.4090 None gnomAD-4.0.0 4.79785E-06
5934 16 S/Y 25 None 0.2462 None gnomAD-4.0.0 1.20032E-06
5936 18 I/S 28 rs1365679296 0.2045 None gnomAD-2.1.1 8.11E-06
5936 18 I/S 28 rs1365679296 0.2045 None gnomAD-3.1.2 6.57E-06
5936 18 I/S 28 rs1365679296 0.2045 None gnomAD-4.0.0 1.23973E-06
5936 18 I/T 28 rs1365679296 0.2045 None gnomAD-2.1.1 6.37E-05
5936 18 I/T 28 rs1365679296 0.2045 None gnomAD-3.1.2 1.31E-05
5936 18 I/T 28 rs1365679296 0.2045 None gnomAD-4.0.0 1.8596E-06
5936 18 I/V 28 rs72648945 0.2045 None gnomAD-2.1.1 9.71E-05
5936 18 I/V 28 rs72648945 0.2045 None gnomAD-3.1.2 9.2E-05
5936 18 I/V 28 rs72648945 0.2045 None gnomAD-4.0.0 1.17777E-04
5938 20 L/F 30 rs1217786152 0.1672 None gnomAD-4.0.0 1.20033E-06
5939 21 E/G 31 None 0.3413 None gnomAD-4.0.0 1.59203E-06
5940 22 C/R 33 rs374882815 0.0906 None gnomAD-2.1.1 1.4374E-04
5940 22 C/R 33 rs374882815 0.0906 None gnomAD-3.1.2 1.24857E-04
5940 22 C/R 33 rs374882815 0.0906 None gnomAD-4.0.0 1.11564E-04
5941 23 I/M 34 rs372022675 0.2118 None gnomAD-2.1.1 4.05E-06
5941 23 I/M 34 rs372022675 0.2118 None gnomAD-3.1.2 6.57E-06
5941 23 I/M 34 rs372022675 0.2118 None gnomAD-4.0.0 6.08953E-06
5941 23 I/R 34 rs773190186 0.2118 None gnomAD-3.1.2 6.57E-06
5941 23 I/R 34 rs773190186 0.2118 None gnomAD-4.0.0 6.5716E-06
5941 23 I/T 34 rs773190186 0.2118 None gnomAD-2.1.1 1.62E-05
5941 23 I/T 34 rs773190186 0.2118 None gnomAD-3.1.2 6.57E-06
5941 23 I/T 34 rs773190186 0.2118 None gnomAD-4.0.0 6.19762E-06
5941 23 I/V 34 rs397517487 0.2118 None gnomAD-2.1.1 3.95E-05
5941 23 I/V 34 rs397517487 0.2118 None gnomAD-3.1.2 6.57E-05
5941 23 I/V 34 rs397517487 0.2118 None 1000 genomes 1.99681E-04
5941 23 I/V 34 rs397517487 0.2118 None gnomAD-4.0.0 1.92111E-05
5942 24 V/L 35 None 0.1184 None gnomAD-4.0.0 6.84311E-07
5943 25 A/S 38 rs1421739163 0.3822 None gnomAD-3.1.2 6.57E-06
5943 25 A/S 38 rs1421739163 0.3822 None gnomAD-4.0.0 2.03E-06
5944 26 G/E 40 rs879222472 0.3636 None gnomAD-3.1.2 1.32E-05
5944 26 G/E 40 rs879222472 0.3636 None gnomAD-4.0.0 4.95842E-06
5944 26 G/R 40 rs879142796 0.3636 None gnomAD-2.1.1 3.19E-05
5944 26 G/R 40 rs879142796 0.3636 None gnomAD-3.1.2 1.32E-05
5944 26 G/R 40 rs879142796 0.3636 None gnomAD-4.0.0 3.84453E-06
5944 26 G/V 40 rs879222472 0.3636 None gnomAD-2.1.1 1.62E-05
5944 26 G/V 40 rs879222472 0.3636 None gnomAD-4.0.0 7.52716E-06
5945 27 S/A 41 rs776790387 0.7135 None gnomAD-4.0.0 2.97189E-04
5945 27 S/P 41 rs776790387 0.7135 None gnomAD-2.1.1 2.86E-05
5945 27 S/P 41 rs776790387 0.7135 None gnomAD-3.1.2 3.94E-05
5945 27 S/P 41 rs776790387 0.7135 None gnomAD-4.0.0 6.57329E-05
5946 28 H/L 42 None 0.7010 None gnomAD-4.0.0 6.84283E-07
5946 28 H/R 42 rs1417520677 0.7010 None gnomAD-4.0.0 1.36857E-06
5946 28 H/Y 42 rs1251182445 0.7010 None gnomAD-2.1.1 4.04E-06
5946 28 H/Y 42 rs1251182445 0.7010 None gnomAD-4.0.0 2.73716E-06
5947 29 P/A 43 None 0.7669 None gnomAD-4.0.0 1.20032E-06
5948 30 I/T 44 rs772946744 0.1614 None gnomAD-2.1.1 1.21E-05
5948 30 I/T 44 rs772946744 0.1614 None gnomAD-3.1.2 1.31E-05
5948 30 I/T 44 rs772946744 0.1614 None gnomAD-4.0.0 1.2395E-05
5948 30 I/V 44 rs780320662 0.1614 None gnomAD-2.1.1 7.17E-06
5948 30 I/V 44 rs780320662 0.1614 None gnomAD-3.1.2 6.57E-06
5948 30 I/V 44 rs780320662 0.1614 None gnomAD-4.0.0 6.81727E-06
5949 31 S/G 45 rs368275231 0.4160 None gnomAD-2.1.1 4.04E-06
5949 31 S/G 45 rs368275231 0.4160 None gnomAD-4.0.0 1.59159E-06
5949 31 S/N 45 rs1578154475 0.4160 None gnomAD-4.0.0 1.36855E-06
5952 34 W/R 48 None 0.1246 None gnomAD-4.0.0 1.59159E-06
5952 34 W/S 48 rs2080292615 0.1246 None gnomAD-3.1.2 6.58E-06
5952 34 W/S 48 rs2080292615 0.1246 None gnomAD-4.0.0 6.57583E-06
5954 36 K/T 50 rs1036512589 0.1244 None gnomAD-3.1.2 1.31E-05
5954 36 K/T 50 rs1036512589 0.1244 None gnomAD-4.0.0 1.31451E-05
5955 37 D/G 51 None 0.4292 None gnomAD-4.0.0 2.40064E-06
5956 38 D/E 52 rs879248826 0.9633 None gnomAD-3.1.2 6.58E-06
5956 38 D/E 52 rs879248826 0.9633 None gnomAD-4.0.0 1.36851E-06
5956 38 D/V 52 rs1322586586 0.9633 None gnomAD-2.1.1 4.03E-06
5956 38 D/V 52 rs1322586586 0.9633 None gnomAD-4.0.0 1.5915E-06
5957 39 Q/E 55 rs201672969 0.7623 None gnomAD-2.1.1 2.15E-05
5957 39 Q/E 55 rs201672969 0.7623 None gnomAD-3.1.2 5.26E-05
5957 39 Q/E 55 rs201672969 0.7623 None gnomAD-4.0.0 5.76398E-05
5957 39 Q/H 55 rs181067357 0.7623 None gnomAD-2.1.1 2.25512E-04
5957 39 Q/H 55 rs181067357 0.7623 None gnomAD-3.1.2 1.97202E-04
5957 39 Q/H 55 rs181067357 0.7623 None gnomAD-4.0.0 1.87767E-04
5958 40 E/D 56 rs2080287202 0.4020 None gnomAD-3.1.2 6.57E-06
5958 40 E/D 56 rs2080287202 0.4020 None gnomAD-4.0.0 4.95792E-06
5959 41 I/M 58 rs576711300 0.1316 None gnomAD-3.1.2 6.57E-06
5959 41 I/M 58 rs576711300 0.1316 None 1000 genomes 1.99681E-04
5959 41 I/M 58 rs576711300 0.1316 None gnomAD-4.0.0 3.84328E-06
5960 42 S/A 59 None 0.6824 None gnomAD-4.0.0 1.5915E-06
5961 43 A/T 70 rs2080285790 0.4826 None gnomAD-3.1.2 6.57E-06
5961 43 A/T 70 rs2080285790 0.4826 None gnomAD-4.0.0 6.57428E-06
5961 43 A/V 70 rs909915866 0.4826 None gnomAD-4.0.0 1.20032E-06
5962 44 S/G 73 None 0.2709 None gnomAD-4.0.0 2.05278E-06
5962 44 S/I 73 None 0.2709 None gnomAD-4.0.0 2.40064E-06
5963 45 E/G 102 rs146983095 1.0243 None gnomAD-2.1.1 6.24446E-03
5963 45 E/G 102 rs146983095 1.0243 None gnomAD-3.1.2 6.04128E-03
5963 45 E/G 102 rs146983095 1.0243 None 1000 genomes 2.19649E-03
5963 45 E/G 102 rs146983095 1.0243 None gnomAD-4.0.0 9.71013E-03
5965 47 Y/H 121 rs752226947 0.2167 None gnomAD-2.1.1 5.01E-05
5965 47 Y/H 121 rs752226947 0.2167 None gnomAD-3.1.2 5.92E-05
5965 47 Y/H 121 rs752226947 0.2167 None gnomAD-4.0.0 2.60307E-05
5966 48 K/T 122 rs1469567732 0.4256 None gnomAD-2.1.1 4.03E-06
5966 48 K/T 122 rs1469567732 0.4256 None gnomAD-4.0.0 2.73703E-06
5967 49 F/L 123 rs1404382323 0.3718 None gnomAD-2.1.1 4.03E-06
5967 49 F/L 123 rs1404382323 0.3718 None gnomAD-3.1.2 6.58E-06
5967 49 F/L 123 rs1404382323 0.3718 None gnomAD-4.0.0 1.85932E-06
5968 50 S/C 125 None 0.3134 None gnomAD-4.0.0 1.36854E-06
5969 51 F/S 127 rs1480885716 0.2909 None gnomAD-2.1.1 4.02E-06
5969 51 F/S 127 rs1480885716 0.2909 None gnomAD-4.0.0 1.59155E-06
5970 52 H/P 130 rs539871760 0.5135 None gnomAD-2.1.1 4.02E-06
5970 52 H/P 130 rs539871760 0.5135 None gnomAD-3.1.2 6.57E-06
5970 52 H/P 130 rs539871760 0.5135 None 1000 genomes 1.99681E-04
5970 52 H/P 130 rs539871760 0.5135 None gnomAD-4.0.0 6.56676E-06
5970 52 H/R 130 rs539871760 0.5135 None gnomAD-2.1.1 4.02E-06
5971 53 D/G 131 rs750122705 0.9655 None gnomAD-2.1.1 1.21E-05
5971 53 D/G 131 rs750122705 0.9655 None gnomAD-4.0.0 9.54927E-06
5971 53 D/N 131 rs762806572 0.9655 None gnomAD-2.1.1 2.01E-05
5971 53 D/N 131 rs762806572 0.9655 None gnomAD-3.1.2 6.57E-06
5971 53 D/N 131 rs762806572 0.9655 None gnomAD-4.0.0 1.15325E-05
5971 53 D/V 131 rs750122705 0.9655 None gnomAD-2.1.1 8.05E-06
5971 53 D/V 131 rs750122705 0.9655 None gnomAD-3.1.2 6.57E-06
5971 53 D/V 131 rs750122705 0.9655 None gnomAD-4.0.0 3.84386E-06
5972 54 N/S 134 rs1447713863 0.4423 None gnomAD-3.1.2 6.57E-06
5972 54 N/S 134 rs1447713863 0.4423 None gnomAD-4.0.0 3.04486E-06
5973 55 T/I 135 rs765275978 0.2023 None gnomAD-2.1.1 4.02E-06
5973 55 T/I 135 rs765275978 0.2023 None gnomAD-3.1.2 6.57E-06
5973 55 T/I 135 rs765275978 0.2023 None gnomAD-4.0.0 6.57428E-06
5973 55 T/P 135 None 0.2023 None gnomAD-4.0.0 1.59154E-06
5973 55 T/S 135 None 0.2023 None gnomAD-4.0.0 1.59154E-06
5974 56 A/S 136 rs761789723 0.0919 None gnomAD-2.1.1 4.02E-06
5975 57 F/V 137 rs776879045 0.2769 None gnomAD-2.1.1 4.02E-06
5975 57 F/V 137 rs776879045 0.2769 None gnomAD-4.0.0 1.59157E-06
5979 61 S/N 141 rs1188866592 0.2739 None gnomAD-4.0.0 1.5916E-06
5980 62 Q/P 143 None 0.8093 None gnomAD-4.0.0 1.20032E-06
5982 64 E/D 145 rs760854297 0.4908 None gnomAD-2.1.1 4.02E-06
5982 64 E/D 145 rs760854297 0.4908 None gnomAD-4.0.0 1.59162E-06
5983 65 G/A 146 rs775766481 0.3060 None gnomAD-2.1.1 4.02E-06
5983 65 G/A 146 rs775766481 0.3060 None gnomAD-3.1.2 1.97E-05
5983 65 G/A 146 rs775766481 0.3060 None gnomAD-4.0.0 3.09885E-06
5983 65 G/D 146 None 0.3060 None gnomAD-4.0.0 1.36855E-06
5983 65 G/S 146 rs1283178531 0.3060 None gnomAD-2.1.1 8.04E-06
5983 65 G/S 146 rs1283178531 0.3060 None gnomAD-4.0.0 6.36657E-06
5984 66 T/A 148 rs772384158 0.7202 None gnomAD-2.1.1 4.42E-05
5984 66 T/A 148 rs772384158 0.7202 None gnomAD-3.1.2 2.63E-05
5984 66 T/A 148 rs772384158 0.7202 None gnomAD-4.0.0 5.14395E-05
5984 66 T/I 148 None 0.7202 None gnomAD-4.0.0 1.20032E-06
5984 66 T/P 148 None 0.7202 None gnomAD-4.0.0 6.8428E-07
5985 67 D/G 149 rs1452556096 0.1323 None gnomAD-2.1.1 4.02E-06
5985 67 D/G 149 rs1452556096 0.1323 None gnomAD-4.0.0 1.36856E-06
5985 67 D/N 149 rs746248401 0.1323 None gnomAD-2.1.1 4.02E-06
5985 67 D/V 149 rs1452556096 0.1323 None gnomAD-2.1.1 4.02E-06
5985 67 D/V 149 rs1452556096 0.1323 None gnomAD-4.0.0 1.36856E-06
5986 68 S/G 151 rs779199136 0.2253 None gnomAD-2.1.1 4.02E-06
5986 68 S/G 151 rs779199136 0.2253 None gnomAD-4.0.0 4.1057E-06
5986 68 S/R 151 None 0.2253 None gnomAD-4.0.0 1.36857E-06
5986 68 S/T 151 None 0.2253 None gnomAD-4.0.0 1.59167E-06
5987 69 G/E 152 None 0.1235 None gnomAD-4.0.0 1.59172E-06
5988 70 T/I 153 rs749765281 0.3170 None gnomAD-2.1.1 2.01E-05
5988 70 T/I 153 rs749765281 0.3170 None gnomAD-3.1.2 1.31E-05
5988 70 T/I 153 rs749765281 0.3170 None gnomAD-4.0.0 1.40954E-05
5990 72 T/A 155 rs570762307 0.1857 None gnomAD-2.1.1 8.04E-06
5990 72 T/A 155 rs570762307 0.1857 None gnomAD-3.1.2 1.97E-05
5990 72 T/A 155 rs570762307 0.1857 None 1000 genomes 1.99681E-04
5990 72 T/A 155 rs570762307 0.1857 None gnomAD-4.0.0 5.57748E-06
5990 72 T/P 155 rs570762307 0.1857 None gnomAD-2.1.1 4.02E-06
5990 72 T/P 155 rs570762307 0.1857 None gnomAD-4.0.0 6.84297E-07
5994 76 T/S 159 rs751239780 0.3311 None gnomAD-2.1.1 2.01E-05
5994 76 T/S 159 rs751239780 0.3311 None gnomAD-4.0.0 7.96024E-06
5997 79 A/T 163 rs72648946 0.8700 None gnomAD-2.1.1 1.80344E-03
5997 79 A/T 163 rs72648946 0.8700 None gnomAD-3.1.2 5.2981E-03
5997 79 A/T 163 rs72648946 0.8700 None 1000 genomes 3.79393E-03
5997 79 A/T 163 rs72648946 0.8700 None gnomAD-4.0.0 9.95458E-04
5998 80 G/R 164 rs757934638 0.3028 None gnomAD-2.1.1 4.02E-06
5998 80 G/R 164 rs757934638 0.3028 None gnomAD-4.0.0 1.36888E-06
5999 81 H/N 165 None 0.4352 None gnomAD-4.0.0 1.59278E-06
5999 81 H/Y 165 rs1443927165 0.4352 None gnomAD-2.1.1 4.02E-06
5999 81 H/Y 165 rs1443927165 0.4352 None gnomAD-4.0.0 1.59278E-06
6000 82 N/D 166 None 0.3533 None gnomAD-4.0.0 1.59313E-06
6001 83 Q/E 168 rs765081807 0.5512 None gnomAD-2.1.1 4.02E-06
6001 83 Q/E 168 rs765081807 0.5512 None gnomAD-4.0.0 2.0542E-06
6001 83 Q/H 168 rs142833401 0.5512 None gnomAD-2.1.1 3.18E-05
6001 83 Q/H 168 rs142833401 0.5512 None gnomAD-3.1.2 1.31E-05
6001 83 Q/H 168 rs142833401 0.5512 None gnomAD-4.0.0 1.3142E-05
6002 84 C/F 169 rs1415040904 0.1071 None gnomAD-3.1.2 6.57E-06
6002 84 C/F 169 rs1415040904 0.1071 None gnomAD-4.0.0 1.86158E-06
6002 84 C/Y 169 None 0.1071 None gnomAD-4.0.0 6.85234E-07
6005 87 H/D 173 None 0.3818 None gnomAD-4.0.0 3.44502E-06
6005 87 H/N 173 rs1241109741 0.3818 None gnomAD-2.1.1 4.06E-06
6005 87 H/N 173 rs1241109741 0.3818 None gnomAD-4.0.0 5.51203E-06
6005 87 H/Q 173 rs1213230929 0.3818 None gnomAD-2.1.1 4.06E-06
6005 87 H/Q 173 rs1213230929 0.3818 None gnomAD-4.0.0 4.85572E-06
6005 87 H/R 173 rs1560786611 0.3818 None gnomAD-2.1.1 4.07E-06
6005 87 H/R 173 rs1560786611 0.3818 None gnomAD-4.0.0 3.23652E-06
6008 90 V/A 177 None 0.1684 None gnomAD-4.0.0 1.38598E-06
6008 90 V/I 177 None 0.1684 None gnomAD-4.0.0 1.63982E-06