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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15120 1 A/T 1 rs773442807 0.1447 None gnomAD-2.1.1 8.15E-06
15120 1 A/T 1 rs773442807 0.1447 None gnomAD-4.0.0 3.19856E-06
15121 2 E/K 2 rs1264862895 0.7356 None gnomAD-2.1.1 4.07E-06
15121 2 E/K 2 rs1264862895 0.7356 None gnomAD-4.0.0 4.79411E-06
15123 4 I/M 4 rs1160173197 0.4701 None gnomAD-2.1.1 3.19E-05
15123 4 I/M 4 rs1160173197 0.4701 None gnomAD-3.1.2 1.32E-05
15123 4 I/M 4 rs1160173197 0.4701 None gnomAD-4.0.0 1.05512E-05
15123 4 I/S 4 None 0.4701 None gnomAD-4.0.0 2.40064E-06
15124 5 S/A 5 None 0.2812 None gnomAD-4.0.0 1.59693E-06
15126 7 P/A 8 rs2058234683 0.1759 None gnomAD-4.0.0 1.43693E-05
15130 11 E/K 14 rs772087689 0.6282 None gnomAD-2.1.1 2.03E-05
15130 11 E/K 14 rs772087689 0.6282 None gnomAD-3.1.2 1.32E-05
15130 11 E/K 14 rs772087689 0.6282 None gnomAD-4.0.0 1.66972E-05
15130 11 E/V 14 rs1473655528 0.6282 None gnomAD-2.1.1 3.19E-05
15130 11 E/V 14 rs1473655528 0.6282 None gnomAD-3.1.2 6.58E-06
15130 11 E/V 14 rs1473655528 0.6282 None gnomAD-4.0.0 6.58146E-06
15131 12 I/V 16 None 0.1376 None gnomAD-4.0.0 4.78689E-06
15133 14 E/D 23 rs781744339 0.5077 None gnomAD-2.1.1 4.06E-06
15133 14 E/D 23 rs781744339 0.5077 None gnomAD-3.1.2 6.58E-06
15133 14 E/D 23 rs781744339 0.5077 None gnomAD-4.0.0 5.58374E-06
15133 14 E/Q 23 None 0.5077 None gnomAD-4.0.0 1.20032E-06
15136 17 K/N 26 rs72677225 0.5826 None gnomAD-2.1.1 5.05756E-03
15136 17 K/N 26 rs72677225 0.5826 None gnomAD-3.1.2 5.01086E-03
15136 17 K/N 26 rs72677225 0.5826 None 1000 genomes 2.19649E-03
15136 17 K/N 26 rs72677225 0.5826 None gnomAD-4.0.0 6.65913E-03
15136 17 K/T 26 None 0.5826 None gnomAD-4.0.0 3.19065E-06
15137 18 A/D 28 rs1305459337 0.1183 None gnomAD-2.1.1 4.06E-06
15137 18 A/D 28 rs1305459337 0.1183 None gnomAD-4.0.0 1.59519E-06
15138 19 E/V 29 None 0.4413 None gnomAD-4.0.0 1.59503E-06
15139 20 F/L 30 None 0.0891 None gnomAD-4.0.0 1.59505E-06
15139 20 F/S 30 rs1403204950 0.0891 None gnomAD-4.0.0 1.59503E-06
15140 21 V/I 31 None 0.3202 None gnomAD-4.0.0 1.59516E-06
15142 23 S/C 34 None 0.1751 None gnomAD-4.0.0 1.36978E-06
15142 23 S/F 34 None 0.1751 None gnomAD-4.0.0 6.84888E-07
15143 24 I/V 35 rs778468554 0.0782 None gnomAD-2.1.1 8.1E-06
15143 24 I/V 35 rs778468554 0.0782 None gnomAD-3.1.2 6.58E-06
15143 24 I/V 35 rs778468554 0.0782 None gnomAD-4.0.0 3.7219E-06
15145 26 K/E 40 None 0.1775 None gnomAD-4.0.0 1.36966E-06
15147 28 S/N 43 rs369604317 0.7432 None gnomAD-3.1.2 6.58E-06
15147 28 S/N 43 rs369604317 0.7432 None gnomAD-4.0.0 5.58282E-06
15147 28 S/R 43 rs987487847 0.7432 None gnomAD-3.1.2 6.59E-06
15147 28 S/R 43 rs987487847 0.7432 None gnomAD-4.0.0 2.03056E-06
15148 29 F/I 44 None 0.2897 None gnomAD-4.0.0 1.59449E-06
15150 31 V/I 46 rs1395618626 0.2410 None gnomAD-2.1.1 1.08E-05
15150 31 V/I 46 rs1395618626 0.2410 None gnomAD-3.1.2 1.32E-05
15150 31 V/I 46 rs1395618626 0.2410 None gnomAD-4.0.0 5.13448E-06
15152 33 W/R 48 rs745384075 0.1406 None gnomAD-2.1.1 7.18E-06
15152 33 W/R 48 rs745384075 0.1406 None gnomAD-3.1.2 6.59E-06
15152 33 W/R 48 rs745384075 0.1406 None gnomAD-4.0.0 1.11655E-05
15153 34 K/E 49 rs2154211745 0.2823 None gnomAD-3.1.2 6.59E-06
15153 34 K/E 49 rs2154211745 0.2823 None gnomAD-4.0.0 6.5799E-06
15154 35 R/K 50 None 0.1773 None gnomAD-4.0.0 1.36954E-06
15155 36 D/E 51 rs1264511051 0.7251 None gnomAD-3.1.2 1.32E-05
15155 36 D/E 51 rs1264511051 0.7251 None gnomAD-4.0.0 1.31692E-05
15155 36 D/G 51 None 0.7251 None gnomAD-4.0.0 1.20032E-06
15155 36 D/N 51 None 0.7251 None gnomAD-4.0.0 6.84766E-07
15156 37 D/G 52 rs1171217657 1.0092 None gnomAD-2.1.1 7.18E-06
15156 37 D/G 52 rs1171217657 1.0092 None gnomAD-4.0.0 2.0543E-06
15156 37 D/N 52 rs1375058579 1.0092 None gnomAD-4.0.0 6.16297E-06
15158 39 T/I 56 rs371879778 0.4084 None gnomAD-2.1.1 1.43E-05
15158 39 T/I 56 rs371879778 0.4084 None gnomAD-3.1.2 3.95E-05
15158 39 T/I 56 rs371879778 0.4084 None gnomAD-4.0.0 1.24058E-05
15159 40 L/F 58 None 0.1668 None gnomAD-4.0.0 1.20032E-06
15159 40 L/P 58 None 0.1668 None gnomAD-4.0.0 1.20032E-06
15159 40 L/V 58 None 0.1668 None gnomAD-4.0.0 2.40064E-06
15160 41 E/K 59 None 0.8381 None gnomAD-4.0.0 1.59424E-06
15161 42 S/C 70 rs1469799928 0.5077 None gnomAD-4.0.0 1.36956E-06
15161 42 S/P 70 rs1191629167 0.5077 None gnomAD-2.1.1 4.04E-06
15161 42 S/P 70 rs1191629167 0.5077 None gnomAD-4.0.0 1.59427E-06
15161 42 S/Y 70 rs1469799928 0.5077 None gnomAD-2.1.1 4.04E-06
15161 42 S/Y 70 rs1469799928 0.5077 None gnomAD-4.0.0 6.8478E-07
15162 43 G/E 73 None 0.3503 None gnomAD-4.0.0 1.59429E-06
15163 44 D/E 111 rs755689835 1.1366 None gnomAD-2.1.1 4.04E-06
15163 44 D/E 111 rs755689835 1.1366 None gnomAD-3.1.2 3.95E-05
15163 44 D/E 111 rs755689835 1.1366 None gnomAD-4.0.0 1.28357E-05
15163 44 D/N 111 rs2058223645 1.1366 None gnomAD-3.1.2 6.59E-06
15163 44 D/N 111 rs2058223645 1.1366 None gnomAD-4.0.0 6.58597E-06
15165 46 Y/C 121 None 0.1970 None gnomAD-4.0.0 1.20032E-06
15166 47 D/N 122 None 0.3337 None gnomAD-4.0.0 1.59415E-06
15166 47 D/V 122 rs2154211726 0.3337 None gnomAD-3.1.2 6.59E-06
15166 47 D/V 122 rs2154211726 0.3337 None gnomAD-4.0.0 6.58111E-06
15167 48 V/I 123 rs183245562 0.3177 None gnomAD-2.1.1 2.61748E-04
15167 48 V/I 123 rs183245562 0.3177 None gnomAD-3.1.2 7.96797E-04
15167 48 V/I 123 rs183245562 0.3177 None 1000 genomes 3.99361E-04
15167 48 V/I 123 rs183245562 0.3177 None gnomAD-4.0.0 1.53816E-04
15167 48 V/L 123 None 0.3177 None gnomAD-4.0.0 6.8477E-07
15168 49 I/S 125 rs964218547 0.4097 None gnomAD-2.1.1 3.19E-05
15168 49 I/S 125 rs964218547 0.4097 None gnomAD-3.1.2 6.59E-06
15168 49 I/S 125 rs964218547 0.4097 None gnomAD-4.0.0 6.58623E-06
15168 49 I/T 125 rs964218547 0.4097 None gnomAD-3.1.2 1.32E-05
15168 49 I/T 125 rs964218547 0.4097 None gnomAD-4.0.0 3.7216E-06
15169 50 A/T 127 rs759247684 0.5169 None gnomAD-2.1.1 4.04E-06
15169 50 A/T 127 rs759247684 0.5169 None gnomAD-3.1.2 6.59E-06
15169 50 A/T 127 rs759247684 0.5169 None gnomAD-4.0.0 1.17849E-05
15170 51 D/E 130 None 0.7520 None gnomAD-4.0.0 1.36937E-06
15170 51 D/N 130 rs751407435 0.7520 None gnomAD-2.1.1 4.04E-06
15170 51 D/N 130 rs751407435 0.7520 None gnomAD-4.0.0 1.30101E-05
15171 52 G/V 131 None 0.2443 None gnomAD-4.0.0 1.5939E-06
15172 53 K/E 134 rs766651994 0.3455 None gnomAD-2.1.1 1.08E-05
15172 53 K/E 134 rs766651994 0.3455 None gnomAD-3.1.2 1.32E-05
15172 53 K/E 134 rs766651994 0.3455 None gnomAD-4.0.0 1.05432E-05
15173 54 K/M 135 None 0.4244 None gnomAD-4.0.0 1.59378E-06
15174 55 R/G 136 rs1237099029 0.1080 None gnomAD-2.1.1 8.07E-06
15174 55 R/G 136 rs1237099029 0.1080 None gnomAD-4.0.0 5.47749E-06
15174 55 R/K 136 rs763294408 0.1080 None gnomAD-2.1.1 2.42E-05
15174 55 R/K 136 rs763294408 0.1080 None gnomAD-3.1.2 6.59E-06
15174 55 R/K 136 rs763294408 0.1080 None gnomAD-4.0.0 4.96163E-06
15174 55 R/M 136 None 0.1080 None gnomAD-4.0.0 6.8469E-07
15175 56 V/A 137 rs773388033 0.1412 None gnomAD-2.1.1 7.17E-06
15175 56 V/A 137 rs773388033 0.1412 None gnomAD-3.1.2 6.59E-06
15175 56 V/A 137 rs773388033 0.1412 None gnomAD-4.0.0 1.24049E-06
15175 56 V/F 137 rs1331081266 0.1412 None gnomAD-3.1.2 6.59E-06
15175 56 V/F 137 rs1331081266 0.1412 None gnomAD-4.0.0 6.58796E-06
15175 56 V/I 137 rs1331081266 0.1412 None gnomAD-2.1.1 4.04E-06
15175 56 V/I 137 rs1331081266 0.1412 None gnomAD-4.0.0 1.59387E-06
15177 58 V/L 139 rs1298913743 0.1544 None gnomAD-2.1.1 4.04E-06
15177 58 V/L 139 rs1298913743 0.1544 None gnomAD-4.0.0 1.59379E-06
15179 60 K/E 141 rs1559877046 0.2155 None gnomAD-2.1.1 4.04E-06
15179 60 K/E 141 rs1559877046 0.2155 None gnomAD-3.1.2 6.58E-06
15179 60 K/E 141 rs1559877046 0.2155 None gnomAD-4.0.0 9.3023E-06
15179 60 K/N 141 rs762005432 0.2155 None gnomAD-2.1.1 4.04E-06
15179 60 K/N 141 rs762005432 0.2155 None gnomAD-4.0.0 2.73863E-06
15180 61 D/Y 143 None 0.7020 None gnomAD-4.0.0 1.20032E-06
15182 63 T/A 145 None 0.2863 None gnomAD-4.0.0 1.59362E-06
15183 64 L/V 146 None 0.6176 None gnomAD-4.0.0 1.59365E-06
15184 65 Q/E 148 rs374605722 0.8325 None gnomAD-4.0.0 1.59363E-06
15186 67 M/T 151 rs878910401 0.2616 None gnomAD-4.0.0 1.20033E-06
15187 68 G/D 152 rs1175658292 0.1894 None gnomAD-2.1.1 4.04E-06
15187 68 G/D 152 rs1175658292 0.1894 None gnomAD-4.0.0 1.59356E-06
15190 71 V/A 155 rs769206817 0.2396 None gnomAD-2.1.1 8.07E-06
15190 71 V/A 155 rs769206817 0.2396 None gnomAD-4.0.0 3.42326E-06
15190 71 V/I 155 rs776996868 0.2396 None gnomAD-2.1.1 3.23E-05
15190 71 V/I 155 rs776996868 0.2396 None gnomAD-4.0.0 1.30086E-05
15191 72 V/L 156 None 0.0682 None gnomAD-4.0.0 1.59369E-06
15192 73 M/I 157 rs1559876731 0.3022 None gnomAD-2.1.1 4.04E-06
15192 73 M/I 157 rs1559876731 0.3022 None gnomAD-4.0.0 1.59375E-06
15192 73 M/T 157 None 0.3022 None gnomAD-4.0.0 1.20032E-06
15193 74 V/A 158 rs1361317643 0.1101 None gnomAD-3.1.2 6.58E-06
15193 74 V/A 158 rs1361317643 0.1101 None gnomAD-4.0.0 2.56618E-06
15193 74 V/L 158 rs1435809981 0.1101 None gnomAD-2.1.1 8.08E-06
15193 74 V/L 158 rs1435809981 0.1101 None gnomAD-4.0.0 3.18744E-06
15194 75 G/R 159 rs747277540 0.4281 None gnomAD-2.1.1 8.08E-06
15194 75 G/R 159 rs747277540 0.4281 None gnomAD-4.0.0 4.78126E-06
15195 76 A/T 161 rs536167152 0.9169 None gnomAD-3.1.2 6.58E-06
15195 76 A/T 161 rs536167152 0.9169 None 1000 genomes 1.99681E-04
15195 76 A/T 161 rs536167152 0.9169 None gnomAD-4.0.0 6.57791E-06
15196 77 A/T 162 rs372872095 0.2498 None gnomAD-2.1.1 2.83E-05
15196 77 A/T 162 rs372872095 0.2498 None gnomAD-3.1.2 1.98E-05
15196 77 A/T 162 rs372872095 0.2498 None gnomAD-4.0.0 1.67462E-05
15197 78 R/G 163 rs748906368 0.7870 None gnomAD-2.1.1 1.21E-05
15197 78 R/G 163 rs748906368 0.7870 None gnomAD-3.1.2 6.58E-06
15197 78 R/G 163 rs748906368 0.7870 None gnomAD-4.0.0 9.92305E-06
15197 78 R/S 163 rs777451653 0.7870 None gnomAD-2.1.1 4.04E-06
15197 78 R/S 163 rs777451653 0.7870 None gnomAD-4.0.0 1.59398E-06
15199 80 A/E 171 None 0.4310 None gnomAD-4.0.0 3.60097E-06
15199 80 A/T 171 None 0.4310 None gnomAD-4.0.0 3.60097E-06
15200 81 A/G 172 rs201057307 0.0997 None gnomAD-2.1.1 5.42007E-04
15200 81 A/G 172 rs201057307 0.0997 None gnomAD-3.1.2 3.02847E-04
15200 81 A/G 172 rs201057307 0.0997 None gnomAD-4.0.0 3.41767E-04
15200 81 A/P 172 None 0.0997 None gnomAD-4.0.0 6.84765E-07
15200 81 A/T 172 rs752318420 0.0997 None gnomAD-2.1.1 3.64E-05
15200 81 A/T 172 rs752318420 0.0997 None gnomAD-3.1.2 1.32E-05
15200 81 A/T 172 rs752318420 0.0997 None gnomAD-4.0.0 8.68365E-06
15204 85 V/D 178 rs1337863742 0.1219 None gnomAD-2.1.1 4.05E-06
15204 85 V/D 178 rs1337863742 0.1219 None gnomAD-4.0.0 1.59547E-06