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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24122 1 R/K 1 None 0.6664 None gnomAD-4.0.0 1.38048E-06
24122 1 R/S 1 None 0.6664 None gnomAD-4.0.0 6.90221E-07
24123 2 P/A 2 rs1709083806 0.1309 None gnomAD-3.1.2 6.58E-06
24123 2 P/A 2 rs1709083806 0.1309 None gnomAD-4.0.0 6.57644E-06
24123 2 P/T 2 None 0.1309 None gnomAD-4.0.0 1.62491E-06
24124 3 G/C 3 None 0.2546 None gnomAD-4.0.0 1.6314E-06
24124 3 G/D 3 rs972618040 0.2546 None gnomAD-4.0.0 6.92864E-07
24125 4 P/L 4 None 0.4236 None gnomAD-4.0.0 6.95959E-07
24125 4 P/T 4 rs1480996647 0.4236 None gnomAD-2.1.1 8.55E-06
24125 4 P/T 4 rs1480996647 0.4236 None gnomAD-3.1.2 1.32E-05
24125 4 P/T 4 rs1480996647 0.4236 None gnomAD-4.0.0 2.82183E-05
24126 5 P/H 5 None 0.1213 None gnomAD-4.0.0 1.66035E-06
24126 5 P/R 5 rs1277679194 0.1213 None gnomAD-4.0.0 1.66035E-06
24126 5 P/T 5 rs1222800053 0.1213 None gnomAD-2.1.1 4.38E-06
24126 5 P/T 5 rs1222800053 0.1213 None gnomAD-4.0.0 1.65986E-06
24127 6 E/K 6 rs149763294 0.4034 None gnomAD-2.1.1 4.89425E-04
24127 6 E/K 6 rs149763294 0.4034 None gnomAD-3.1.2 8.2849E-04
24127 6 E/K 6 rs149763294 0.4034 None 1000 genomes 9.98403E-04
24127 6 E/K 6 rs149763294 0.4034 None gnomAD-4.0.0 2.84901E-04
24129 8 P/S 8 None 0.7587 None gnomAD-4.0.0 7.00649E-07
24129 8 P/T 8 rs769979644 0.7587 None gnomAD-2.1.1 4.53E-06
24129 8 P/T 8 rs769979644 0.7587 None gnomAD-4.0.0 7.00649E-07
24130 9 L/F 9 rs376664950 0.1393 None gnomAD-2.1.1 4.62E-06
24130 9 L/F 9 rs376664950 0.1393 None gnomAD-4.0.0 1.40585E-06
24130 9 L/S 9 None 0.1393 None gnomAD-4.0.0 1.20032E-06
24131 10 A/D 11 rs1334813711 0.2736 None gnomAD-2.1.1 4.65E-06
24131 10 A/D 11 rs1334813711 0.2736 None gnomAD-4.0.0 7.03795E-07
24131 10 A/G 11 None 0.2736 None gnomAD-4.0.0 7.03795E-07
24131 10 A/P 11 None 0.2736 None gnomAD-4.0.0 2.81405E-06
24132 11 V/I 12 rs727504188 0.2656 None gnomAD-3.1.2 6.58E-06
24132 11 V/I 12 rs727504188 0.2656 None gnomAD-4.0.0 5.11185E-06
24133 12 T/I 13 rs977953337 0.4339 None gnomAD-4.0.0 1.41993E-06
24134 13 E/A 14 None 0.5859 None gnomAD-4.0.0 1.7459E-06
24135 14 V/M 15 rs748407318 0.2191 None gnomAD-2.1.1 9.88E-06
24135 14 V/M 15 rs748407318 0.2191 None gnomAD-4.0.0 6.41099E-06
24137 16 S/P 17 None 0.1545 None gnomAD-4.0.0 3.53603E-06
24138 17 E/G 18 rs776517983 0.6669 None gnomAD-2.1.1 5.01E-06
24138 17 E/V 18 None 0.6669 None gnomAD-4.0.0 1.20032E-06
24140 19 C/F 20 None 0.0916 None gnomAD-4.0.0 1.78194E-06
24140 19 C/R 20 rs768746312 0.0916 None gnomAD-2.1.1 5.05E-06
24140 19 C/R 20 rs768746312 0.0916 None gnomAD-4.0.0 1.77973E-06
24140 19 C/S 20 None 0.0916 None gnomAD-4.0.0 1.78194E-06
24140 19 C/Y 20 rs879192818 0.0916 None gnomAD-4.0.0 5.34582E-06
24141 20 V/I 21 rs1458321606 0.1540 None gnomAD-3.1.2 6.58E-06
24141 20 V/I 21 rs1458321606 0.1540 None gnomAD-4.0.0 6.57635E-06
24142 21 L/I 22 None 0.1074 None gnomAD-4.0.0 7.18185E-07
24142 21 L/P 22 rs986884075 0.1074 None gnomAD-2.1.1 5.16E-06
24142 21 L/P 22 rs986884075 0.1074 None gnomAD-4.0.0 1.36733E-05
24142 21 L/Q 22 rs986884075 0.1074 None gnomAD-3.1.2 1.31E-05
24142 21 L/Q 22 rs986884075 0.1074 None gnomAD-4.0.0 1.94594E-06
24144 23 W/C 24 None 0.1175 None gnomAD-4.0.0 1.20032E-06
24144 23 W/R 24 rs554779387 0.1175 None gnomAD-2.1.1 5.31E-06
24144 23 W/R 24 rs554779387 0.1175 None gnomAD-3.1.2 6.57E-06
24144 23 W/R 24 rs554779387 0.1175 None 1000 genomes 1.99681E-04
24144 23 W/R 24 rs554779387 0.1175 None gnomAD-4.0.0 1.82183E-06
24145 24 F/L 25 rs758746801 0.6886 None gnomAD-2.1.1 9.17E-06
24146 25 P/R 26 rs1184232674 0.4626 None gnomAD-2.1.1 5.49E-06
24146 25 P/R 26 rs1184232674 0.4626 None gnomAD-4.0.0 1.8529E-06
24149 28 D/H 29 None 0.6384 None gnomAD-4.0.0 1.8644E-06
24150 29 D/E 30 None 0.2947 None gnomAD-4.0.0 7.31337E-07
24150 29 D/N 30 None 0.2947 None gnomAD-4.0.0 1.20034E-06
24151 30 G/E 31 None 0.3203 None gnomAD-4.0.0 1.46305E-06
24152 31 G/A 32 None 0.6115 None gnomAD-4.0.0 7.32921E-07
24152 31 G/D 32 rs752412425 0.6115 None gnomAD-2.1.1 5.65E-06
24152 31 G/D 32 rs752412425 0.6115 None gnomAD-4.0.0 5.86337E-06
24152 31 G/R 32 rs538368683 0.6115 None gnomAD-2.1.1 1.69E-05
24152 31 G/R 32 rs538368683 0.6115 None gnomAD-3.1.2 6.58E-06
24152 31 G/R 32 rs538368683 0.6115 None 1000 genomes 1.99681E-04
24152 31 G/R 32 rs538368683 0.6115 None gnomAD-4.0.0 1.02443E-05
24152 31 G/V 32 rs752412425 0.6115 None gnomAD-4.0.0 7.32921E-07
24153 32 A/G 33 None 0.1952 None gnomAD-4.0.0 7.33455E-07
24153 32 A/P 33 None 0.1952 None gnomAD-4.0.0 7.33281E-07
24153 32 A/T 33 None 0.1952 None gnomAD-4.0.0 7.33281E-07
24153 32 A/V 33 rs767092290 0.1952 None gnomAD-2.1.1 5.66E-06
24153 32 A/V 33 rs767092290 0.1952 None gnomAD-4.0.0 7.33455E-07
24155 34 I/T 35 rs946539839 0.1794 None gnomAD-4.0.0 2.93253E-06
24156 35 D/N 36 rs1709040632 0.4720 None gnomAD-3.1.2 6.58E-06
24156 35 D/N 36 rs1709040632 0.4720 None gnomAD-4.0.0 6.57592E-06
24157 36 H/Y 37 None 0.2131 None gnomAD-4.0.0 1.88609E-06
24159 38 I/V 39 rs371764714 0.2243 None gnomAD-2.1.1 3.86E-05
24159 38 I/V 39 rs371764714 0.2243 None gnomAD-3.1.2 5.92E-05
24159 38 I/V 39 rs371764714 0.2243 None gnomAD-4.0.0 2.11103E-05
24160 39 V/L 40 None 0.1085 None gnomAD-4.0.0 1.88852E-06
24163 42 R/C 43 rs778284888 0.2311 None gnomAD-2.1.1 3.19E-05
24163 42 R/C 43 rs778284888 0.2311 None gnomAD-3.1.2 1.32E-05
24163 42 R/C 43 rs778284888 0.2311 None gnomAD-4.0.0 1.39829E-05
24163 42 R/G 43 None 0.2311 None gnomAD-4.0.0 7.40859E-07
24163 42 R/H 43 rs374712231 0.2311 None gnomAD-2.1.1 3.48E-05
24163 42 R/H 43 rs374712231 0.2311 None gnomAD-3.1.2 5.92E-05
24163 42 R/H 43 rs374712231 0.2311 None 1000 genomes 3.99361E-04
24163 42 R/H 43 rs374712231 0.2311 None gnomAD-4.0.0 4.93351E-05
24163 42 R/L 43 rs374712231 0.2311 None gnomAD-2.1.1 9.93E-06
24163 42 R/L 43 rs374712231 0.2311 None gnomAD-4.0.0 1.48394E-06
24163 42 R/S 43 None 0.2311 None gnomAD-4.0.0 2.22258E-06
24168 47 L/S 63 None 1.1410 None gnomAD-4.0.0 1.9379E-06
24169 48 A/T 64 None 0.5163 None gnomAD-4.0.0 1.94048E-06
24170 49 W/G 65 rs878867684 0.2652 None gnomAD-3.1.2 6.57E-06
24170 49 W/G 65 rs878867684 0.2652 None gnomAD-4.0.0 1.33208E-06
24170 49 W/R 65 rs878867684 0.2652 None gnomAD-4.0.0 4.44672E-06
24171 50 T/I 66 rs1365291247 0.4537 None gnomAD-4.0.0 5.83419E-06
24172 51 N/D 67 rs1457842450 0.6253 None gnomAD-3.1.2 1.32E-05
24172 51 N/D 67 rs1457842450 0.6253 None gnomAD-4.0.0 3.99912E-06
24172 51 N/S 67 rs772817909 0.6253 None gnomAD-2.1.1 5.9E-06
24172 51 N/S 67 rs772817909 0.6253 None gnomAD-4.0.0 1.94108E-06
24173 52 V/A 68 rs1260315259 0.3059 None gnomAD-3.1.2 6.58E-06
24173 52 V/A 68 rs1260315259 0.3059 None gnomAD-4.0.0 6.57644E-06
24173 52 V/I 68 rs1709023380 0.3059 None gnomAD-3.1.2 6.58E-06
24173 52 V/I 68 rs1709023380 0.3059 None gnomAD-4.0.0 4.66802E-06
24176 55 E/D 75 rs878854331 0.7202 None gnomAD-4.0.0 2.40064E-06
24176 55 E/Q 75 rs1553609326 0.7202 None gnomAD-4.0.0 1.94898E-06
24177 56 V/I 77 rs1031881489 0.1474 None gnomAD-4.0.0 7.43576E-07
24178 57 Q/H 83 None 0.8679 None gnomAD-4.0.0 7.42763E-07
24179 58 V/I 88 rs1400549364 0.5878 None gnomAD-2.1.1 1E-05
24179 58 V/I 88 rs1400549364 0.5878 None gnomAD-3.1.2 1.32E-05
24179 58 V/I 88 rs1400549364 0.5878 None gnomAD-4.0.0 6.67919E-06
24183 62 K/N 92 None 0.5450 None gnomAD-4.0.0 7.43133E-07
24183 62 K/T 92 None 0.5450 None gnomAD-4.0.0 7.42424E-07
24184 63 V/G 93 None 0.1383 None gnomAD-4.0.0 1.48974E-06
24184 63 V/I 93 None 0.1383 None gnomAD-4.0.0 1.95044E-06
24186 65 K/E 96 rs768699380 0.8845 None gnomAD-2.1.1 2.51E-05
24186 65 K/E 96 rs768699380 0.8845 None gnomAD-3.1.2 7.23E-05
24186 65 K/E 96 rs768699380 0.8845 None gnomAD-4.0.0 1.13497E-05
24188 67 L/F 98 None 0.6219 None gnomAD-4.0.0 2.97461E-06
24189 68 K/R 99 None 0.7829 None gnomAD-4.0.0 1.20032E-06
24190 69 G/V 100 rs1246622936 0.3471 None gnomAD-4.0.0 7.43645E-07
24191 70 N/S 102 rs1479698498 0.3077 None gnomAD-3.1.2 6.57E-06
24191 70 N/S 102 rs1479698498 0.3077 None gnomAD-4.0.0 2.00286E-06
24191 70 N/Y 102 None 0.3077 None gnomAD-4.0.0 1.94866E-06
24193 72 Y/C 104 None 0.1029 None gnomAD-4.0.0 1.95251E-06
24194 73 I/L 105 rs746396020 0.1830 None gnomAD-2.1.1 5.96E-06
24194 73 I/L 105 rs746396020 0.1830 None gnomAD-4.0.0 1.95229E-06
24195 74 F/Y 106 None 0.1257 None gnomAD-4.0.0 1.48632E-06
24196 75 R/C 107 rs185626486 0.1467 None gnomAD-2.1.1 1.16182E-04
24196 75 R/C 107 rs185626486 0.1467 None gnomAD-3.1.2 5.26E-05
24196 75 R/C 107 rs185626486 0.1467 None 1000 genomes 3.99361E-04
24196 75 R/C 107 rs185626486 0.1467 None gnomAD-4.0.0 3.81081E-05
24196 75 R/H 107 rs200317412 0.1467 None gnomAD-2.1.1 2.72284E-04
24196 75 R/H 107 rs200317412 0.1467 None gnomAD-3.1.2 5.78818E-04
24196 75 R/H 107 rs200317412 0.1467 None 1000 genomes 7.98722E-04
24196 75 R/H 107 rs200317412 0.1467 None gnomAD-4.0.0 1.22977E-04
24197 76 V/I 108 None 0.0809 None gnomAD-4.0.0 3.90683E-06
24198 77 M/T 109 None 0.1227 None gnomAD-4.0.0 1.95311E-06
24199 78 A/P 110 rs747720787 0.1019 None gnomAD-3.1.2 1.32E-05
24199 78 A/P 110 rs747720787 0.1019 None gnomAD-4.0.0 4.52284E-06
24199 78 A/T 110 rs747720787 0.1019 None gnomAD-2.1.1 1.2E-05
24199 78 A/T 110 rs747720787 0.1019 None gnomAD-3.1.2 6.58E-06
24199 78 A/V 110 rs781043729 0.1019 None gnomAD-2.1.1 5.99E-06
24199 78 A/V 110 rs781043729 0.1019 None gnomAD-3.1.2 6.58E-06
24199 78 A/V 110 rs781043729 0.1019 None gnomAD-4.0.0 4.67714E-06
24202 81 K/T 113 None 0.4369 None gnomAD-4.0.0 2.22943E-06
24203 82 Y/F 114 rs1235190476 0.6424 None gnomAD-2.1.1 6.38E-05
24203 82 Y/F 114 rs1235190476 0.6424 None gnomAD-4.0.0 1.20032E-06
24204 83 G/V 115 None 0.2350 None gnomAD-4.0.0 1.95259E-06
24205 84 V/L 117 rs1322881049 0.4633 None gnomAD-3.1.2 6.58E-06
24205 84 V/L 117 rs1322881049 0.4633 None gnomAD-4.0.0 6.57609E-06
24205 84 V/M 117 None 0.4633 None gnomAD-4.0.0 1.78312E-05
24211 90 S/T 123 rs758212615 0.1512 None gnomAD-2.1.1 5.42E-05
24211 90 S/T 123 rs758212615 0.1512 None gnomAD-3.1.2 3.95E-05
24211 90 S/T 123 rs758212615 0.1512 None gnomAD-4.0.0 1.73517E-05
24212 91 E/G 125 rs1708983044 0.7232 None gnomAD-4.0.0 5.8205E-06
24214 93 V/L 127 None 0.2381 None gnomAD-4.0.0 7.406E-07
24216 95 A/V 130 rs1430603849 0.0767 None gnomAD-3.1.2 1.32E-05
24218 97 N/K 132 None 0.6047 None gnomAD-4.0.0 1.47595E-06
24218 97 N/Y 132 None 0.6047 None gnomAD-4.0.0 1.47592E-06