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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29933 1 T/I 1 None 0.2709 None gnomAD-4.0.0 1.20032E-06
29933 1 T/P 1 rs767264453 0.2709 None gnomAD-2.1.1 8.07E-06
29933 1 T/P 1 rs767264453 0.2709 None gnomAD-4.0.0 1.59828E-06
29934 2 P/L 2 None 0.1044 None gnomAD-4.0.0 1.20032E-06
29935 3 A/D 3 rs1247896491 0.2056 None gnomAD-2.1.1 4.04E-06
29935 3 A/D 3 rs1247896491 0.2056 None gnomAD-4.0.0 1.59765E-06
29936 4 A/D 4 None 0.2480 None gnomAD-4.0.0 1.59813E-06
29936 4 A/T 4 rs188667007 0.2480 None gnomAD-2.1.1 3.19E-05
29936 4 A/T 4 rs188667007 0.2480 None gnomAD-4.0.0 4.79461E-06
29937 5 C/F 5 None 0.1367 None gnomAD-4.0.0 1.5985E-06
29937 5 C/W 5 None 0.1367 None gnomAD-4.0.0 1.59792E-06
29937 5 C/Y 5 rs577272158 0.1367 None gnomAD-2.1.1 4.04E-06
29937 5 C/Y 5 rs577272158 0.1367 None gnomAD-3.1.2 6.57E-06
29937 5 C/Y 5 rs577272158 0.1367 None 1000 genomes 1.99681E-04
29937 5 C/Y 5 rs577272158 0.1367 None gnomAD-4.0.0 6.56556E-06
29943 11 K/E 13 None 0.4838 None gnomAD-4.0.0 1.59631E-06
29943 11 K/T 13 rs532120965 0.4838 None gnomAD-2.1.1 8.07E-06
29943 11 K/T 13 rs532120965 0.4838 None gnomAD-4.0.0 3.19004E-06
29944 12 H/Y 14 rs560541272 0.7492 None gnomAD-2.1.1 1.61E-05
29944 12 H/Y 14 rs560541272 0.7492 None gnomAD-3.1.2 1.31E-05
29944 12 H/Y 14 rs560541272 0.7492 None 1000 genomes 1.99681E-04
29944 12 H/Y 14 rs560541272 0.7492 None gnomAD-4.0.0 1.05442E-05
29945 13 V/L 15 rs1311015897 0.3270 None gnomAD-3.1.2 1.31E-05
29945 13 V/L 15 rs1311015897 0.3270 None gnomAD-4.0.0 1.24072E-05
29946 14 S/C 16 rs1019701643 0.2899 None gnomAD-2.1.1 3.18E-05
29946 14 S/C 16 rs1019701643 0.2899 None gnomAD-3.1.2 3.29E-05
29946 14 S/C 16 rs1019701643 0.2899 None gnomAD-4.0.0 7.69724E-06
29946 14 S/F 16 rs1019701643 0.2899 None gnomAD-2.1.1 3.18E-05
29946 14 S/F 16 rs1019701643 0.2899 None gnomAD-3.1.2 6.57E-06
29946 14 S/F 16 rs1019701643 0.2899 None gnomAD-4.0.0 6.57151E-06
29947 15 R/P 17 None 0.6988 None gnomAD-4.0.0 6.84829E-07
29947 15 R/Q 17 rs762912526 0.6988 None gnomAD-2.1.1 2.43E-05
29947 15 R/Q 17 rs762912526 0.6988 None gnomAD-3.1.2 1.97E-05
29947 15 R/Q 17 rs762912526 0.6988 None gnomAD-4.0.0 1.48849E-05
29948 16 G/S 18 None 0.1506 None gnomAD-4.0.0 1.20032E-06
29949 17 T/I 19 rs1284316750 0.2092 None gnomAD-2.1.1 4.04E-06
29949 17 T/I 19 rs1284316750 0.2092 None gnomAD-4.0.0 1.36982E-06
29950 18 V/D 20 None 0.1052 None gnomAD-4.0.0 1.59494E-06
29950 18 V/I 20 None 0.1052 None gnomAD-4.0.0 6.84901E-07
29953 21 L/F 23 None 0.3705 None gnomAD-4.0.0 3.19124E-06
29953 21 L/I 23 None 0.3705 None gnomAD-4.0.0 1.59562E-06
29955 23 D/N 25 rs1700018329 0.3789 None gnomAD-4.0.0 1.37014E-06
29956 24 P/L 26 None 0.4255 None gnomAD-4.0.0 2.05542E-06
29956 24 P/S 26 rs773071868 0.4255 None gnomAD-2.1.1 8.1E-06
29956 24 P/S 26 rs773071868 0.4255 None gnomAD-4.0.0 4.11062E-06
29957 25 P/T 27 rs1164517962 0.1751 None gnomAD-2.1.1 3.19E-05
29957 25 P/T 27 rs1164517962 0.1751 None gnomAD-3.1.2 6.57E-06
29957 25 P/T 27 rs1164517962 0.1751 None gnomAD-4.0.0 1.92349E-05
29958 26 L/F 28 rs1700014716 0.9029 None gnomAD-4.0.0 2.40101E-06
29959 27 I/L 29 None 0.5574 None gnomAD-4.0.0 1.20046E-06
29959 27 I/T 29 rs374906767 0.5574 None gnomAD-2.1.1 4.05E-06
29959 27 I/T 29 rs374906767 0.5574 None gnomAD-3.1.2 6.57E-06
29959 27 I/T 29 rs374906767 0.5574 None 1000 genomes 1.99681E-04
29959 27 I/T 29 rs374906767 0.5574 None gnomAD-4.0.0 4.96346E-06
29960 28 D/G 30 rs1426747610 0.2845 None gnomAD-2.1.1 3.18E-05
29960 28 D/G 30 rs1426747610 0.2845 None gnomAD-3.1.2 6.57E-06
29960 28 D/G 30 rs1426747610 0.2845 None gnomAD-4.0.0 6.56961E-06
29960 28 D/N 30 None 0.2845 None gnomAD-4.0.0 1.59663E-06
29961 29 G/R 31 None 0.1346 None gnomAD-4.0.0 6.85209E-07
29962 30 G/V 32 rs915330974 0.3191 None gnomAD-2.1.1 4.05E-06
29962 30 G/V 32 rs915330974 0.3191 None gnomAD-4.0.0 1.59666E-06
29963 31 S/A 33 None 0.1753 None gnomAD-4.0.0 1.5967E-06
29963 31 S/F 33 None 0.1753 None gnomAD-4.0.0 6.85233E-07
29965 33 I/K 35 None 0.1987 None gnomAD-4.0.0 1.59642E-06
29965 33 I/T 35 rs1409848812 0.1987 None gnomAD-3.1.2 6.57E-06
29965 33 I/T 35 rs1409848812 0.1987 None gnomAD-4.0.0 6.57065E-06
29965 33 I/V 35 rs370135800 0.1987 None gnomAD-2.1.1 1.22E-05
29965 33 I/V 35 rs370135800 0.1987 None gnomAD-3.1.2 2.63E-05
29965 33 I/V 35 rs370135800 0.1987 None gnomAD-4.0.0 4.34328E-06
29966 34 I/M 36 rs776286853 0.3231 None gnomAD-2.1.1 8.1E-06
29966 34 I/M 36 rs776286853 0.3231 None gnomAD-4.0.0 2.05539E-06
29967 35 N/S 37 rs1419503534 0.2802 None gnomAD-3.1.2 6.57E-06
29967 35 N/S 37 rs1419503534 0.2802 None gnomAD-4.0.0 1.86135E-06
29968 36 Y/C 38 None 0.1199 None gnomAD-4.0.0 1.59607E-06
29969 37 V/A 39 rs201220828 0.1341 None gnomAD-2.1.1 1.44E-05
29969 37 V/A 39 rs201220828 0.1341 None gnomAD-3.1.2 3.29E-05
29969 37 V/A 39 rs201220828 0.1341 None gnomAD-4.0.0 5.58327E-06
29969 37 V/I 39 None 0.1341 None gnomAD-4.0.0 1.59595E-06
29970 38 I/T 40 None 0.0689 None gnomAD-4.0.0 1.20032E-06
29971 39 E/G 41 rs1361724655 0.1345 None gnomAD-4.0.0 1.59536E-06
29973 41 R/K 43 rs1183482452 0.1681 None gnomAD-2.1.1 7.17E-06
29973 41 R/K 43 rs1183482452 0.1681 None gnomAD-3.1.2 6.57E-06
29973 41 R/K 43 rs1183482452 0.1681 None gnomAD-4.0.0 1.86077E-06
29973 41 R/T 43 rs1183482452 0.1681 None gnomAD-4.0.0 2.73955E-06
29975 43 A/V 50 rs117097948 0.2222 None gnomAD-2.1.1 7.53E-05
29975 43 A/V 50 rs117097948 0.2222 None gnomAD-3.1.2 5.26E-05
29975 43 A/V 50 rs117097948 0.2222 None 1000 genomes 5.99042E-04
29975 43 A/V 50 rs117097948 0.2222 None gnomAD-4.0.0 3.22485E-05
29976 44 T/I 54 rs772210991 0.6482 None gnomAD-2.1.1 8.07E-06
29976 44 T/I 54 rs772210991 0.6482 None gnomAD-4.0.0 1.59396E-06
29976 44 T/N 54 None 0.6482 None gnomAD-4.0.0 1.59396E-06
29976 44 T/P 54 None 0.6482 None gnomAD-4.0.0 2.40065E-06
29978 46 R/G 63 rs746391024 0.9583 None gnomAD-2.1.1 4.03E-06
29978 46 R/G 63 rs746391024 0.9583 None gnomAD-4.0.0 6.84609E-07
29978 46 R/K 63 rs570797774 0.9583 None gnomAD-4.0.0 1.36925E-06
29979 47 T/I 64 rs779619858 0.7380 None gnomAD-2.1.1 9.68E-05
29979 47 T/I 64 rs779619858 0.7380 None gnomAD-3.1.2 1.70864E-04
29979 47 T/I 64 rs779619858 0.7380 None gnomAD-4.0.0 4.64989E-05
29979 47 T/R 64 rs779619858 0.7380 None gnomAD-2.1.1 4.03E-06
29979 47 T/R 64 rs779619858 0.7380 None gnomAD-3.1.2 6.57E-06
29979 47 T/R 64 rs779619858 0.7380 None gnomAD-4.0.0 6.57168E-06
29980 48 W/R 65 None 0.2306 None gnomAD-4.0.0 6.84488E-07
29981 49 S/P 66 rs1279876422 0.4450 None gnomAD-2.1.1 4.03E-06
29981 49 S/P 66 rs1279876422 0.4450 None gnomAD-4.0.0 3.18521E-06
29983 51 V/A 68 None 0.2922 None gnomAD-4.0.0 7.202E-06
29983 51 V/L 68 None 0.2922 None gnomAD-4.0.0 6.84415E-07
29983 51 V/M 68 rs397517746 0.2922 None gnomAD-2.1.1 1.07345E-04
29983 51 V/M 68 rs397517746 0.2922 None gnomAD-3.1.2 9.2E-05
29983 51 V/M 68 rs397517746 0.2922 None gnomAD-4.0.0 8.86406E-05
29984 52 S/T 69 rs1306828364 0.1580 None gnomAD-3.1.2 6.57E-06
29984 52 S/T 69 rs1306828364 0.1580 None gnomAD-4.0.0 6.57497E-06
29985 53 H/Q 70 rs1327715051 0.6035 None gnomAD-3.1.2 1.31E-05
29985 53 H/Q 70 rs1327715051 0.6035 None gnomAD-4.0.0 1.3148E-05
29985 53 H/Y 70 rs557248616 0.6035 None gnomAD-4.0.0 1.20034E-06
29986 54 K/R 75 None 0.9170 None gnomAD-4.0.0 2.05289E-06
29986 54 K/T 75 rs1382190597 0.9170 None gnomAD-2.1.1 4.03E-06
29986 54 K/T 75 rs1382190597 0.9170 None gnomAD-4.0.0 6.84295E-07
29987 55 C/W 77 None 0.0981 None gnomAD-4.0.0 1.59159E-06
29987 55 C/Y 77 None 0.0981 None gnomAD-4.0.0 1.59169E-06
29988 56 S/A 83 rs1291865715 0.7145 None gnomAD-2.1.1 3.19E-05
29988 56 S/A 83 rs1291865715 0.7145 None gnomAD-3.1.2 6.58E-06
29988 56 S/A 83 rs1291865715 0.7145 None gnomAD-4.0.0 6.57644E-06
29988 56 S/F 83 rs1313004711 0.7145 None gnomAD-2.1.1 4.03E-06
29988 56 S/F 83 rs1313004711 0.7145 None gnomAD-3.1.2 6.58E-06
29988 56 S/F 83 rs1313004711 0.7145 None gnomAD-4.0.0 6.57566E-06
29989 57 S/G 88 rs1225946550 0.4462 None gnomAD-3.1.2 1.97E-05
29989 57 S/G 88 rs1225946550 0.4462 None gnomAD-4.0.0 7.43666E-06
29989 57 S/T 88 None 0.4462 None gnomAD-4.0.0 1.59153E-06
29990 58 T/I 89 None 0.3044 None gnomAD-4.0.0 6.84257E-07
29990 58 T/K 89 rs1699983035 0.3044 None gnomAD-4.0.0 1.36851E-06
29991 59 S/F 90 rs879239139 0.3453 None gnomAD-2.1.1 3.19E-05
29991 59 S/F 90 rs879239139 0.3453 None gnomAD-3.1.2 1.32E-05
29991 59 S/F 90 rs879239139 0.3453 None gnomAD-4.0.0 5.12535E-06
29991 59 S/T 90 rs777975852 0.3453 None gnomAD-2.1.1 4.03E-06
29991 59 S/T 90 rs777975852 0.3453 None gnomAD-4.0.0 1.5914E-06
29993 61 K/R 92 rs1322969533 0.4876 None gnomAD-3.1.2 2.63E-05
29993 61 K/R 92 rs1322969533 0.4876 None gnomAD-4.0.0 5.07491E-06
29994 62 L/P 93 rs1334681258 0.1080 None gnomAD-2.1.1 4.03E-06
29994 62 L/P 93 rs1334681258 0.1080 None gnomAD-3.1.2 6.57E-06
29994 62 L/P 93 rs1334681258 0.1080 None gnomAD-4.0.0 3.84359E-06
29995 63 I/R 94 rs754676727 0.5808 None gnomAD-3.1.2 1.97E-05
29995 63 I/R 94 rs754676727 0.5808 None gnomAD-4.0.0 1.97267E-05
29995 63 I/T 94 rs754676727 0.5808 None gnomAD-2.1.1 7.15E-06
29995 63 I/T 94 rs754676727 0.5808 None gnomAD-3.1.2 3.29E-05
29995 63 I/T 94 rs754676727 0.5808 None gnomAD-4.0.0 2.60286E-05
29997 65 L/M 97 rs369855092 0.1839 None gnomAD-2.1.1 1.41317E-03
29997 65 L/M 97 rs369855092 0.1839 None gnomAD-3.1.2 4.27395E-04
29997 65 L/M 97 rs369855092 0.1839 None 1000 genomes 2.79553E-03
29997 65 L/M 97 rs369855092 0.1839 None gnomAD-4.0.0 7.22552E-04
29997 65 L/V 97 None 0.1839 None gnomAD-4.0.0 6.84218E-07
29998 66 S/L 98 rs376543931 0.3080 None gnomAD-2.1.1 2.86E-05
29998 66 S/L 98 rs376543931 0.3080 None gnomAD-3.1.2 6.58E-06
29998 66 S/L 98 rs376543931 0.3080 None gnomAD-4.0.0 1.73531E-05
29999 67 E/V 99 rs1249458719 0.4844 None gnomAD-4.0.0 1.5913E-06
30001 69 T/I 102 None 0.2157 None gnomAD-4.0.0 6.84213E-07
30001 69 T/N 102 None 0.2157 None gnomAD-4.0.0 2.05264E-06
30002 70 P/T 103 None 0.2991 None gnomAD-4.0.0 1.59126E-06
30003 71 F/L 104 rs761627535 0.1201 None gnomAD-2.1.1 3.22E-05
30003 71 F/L 104 rs761627535 0.1201 None gnomAD-4.0.0 2.0686E-05
30004 72 F/V 105 rs1238583004 0.1627 None gnomAD-2.1.1 4.03E-06
30004 72 F/V 105 rs1238583004 0.1627 None gnomAD-4.0.0 1.59126E-06
30005 73 F/S 106 None 0.1177 None gnomAD-4.0.0 1.20032E-06
30006 74 R/G 107 rs1445678405 0.1243 None gnomAD-2.1.1 4.03E-06
30006 74 R/G 107 rs1445678405 0.1243 None gnomAD-3.1.2 6.57E-06
30006 74 R/G 107 rs1445678405 0.1243 None gnomAD-4.0.0 3.84307E-06
30007 75 V/A 108 None 0.0886 None gnomAD-4.0.0 1.5913E-06
30009 77 A/T 110 None 0.1073 None gnomAD-4.0.0 1.20032E-06
30010 78 E/A 111 None 0.2723 None gnomAD-4.0.0 1.20032E-06
30010 78 E/D 111 rs1481370261 0.2723 None gnomAD-3.1.2 6.57E-06
30010 78 E/D 111 rs1481370261 0.2723 None gnomAD-4.0.0 6.57091E-06
30011 79 N/H 112 rs1553540660 0.0841 None gnomAD-4.0.0 2.40064E-06
30012 80 E/K 113 rs796978396 0.7258 None gnomAD-4.0.0 3.4211E-06
30013 81 I/T 114 rs369899112 0.3545 None gnomAD-2.1.1 4.02E-06
30013 81 I/T 114 rs369899112 0.3545 None gnomAD-4.0.0 1.59128E-06
30013 81 I/V 114 rs902222433 0.3545 None gnomAD-2.1.1 7.15E-06
30013 81 I/V 114 rs902222433 0.3545 None gnomAD-3.1.2 1.31E-05
30013 81 I/V 114 rs902222433 0.3545 None gnomAD-4.0.0 3.04478E-06
30014 82 G/E 115 rs1359003253 0.1834 None gnomAD-2.1.1 1.21E-05
30014 82 G/E 115 rs1359003253 0.1834 None gnomAD-4.0.0 2.25791E-05
30015 83 I/T 117 rs1289787170 0.4467 None gnomAD-2.1.1 1.43E-05
30015 83 I/T 117 rs1289787170 0.4467 None gnomAD-3.1.2 6.57E-06
30015 83 I/T 117 rs1289787170 0.4467 None gnomAD-4.0.0 9.91505E-06
30017 85 E/D 119 rs558277631 0.6824 None gnomAD-2.1.1 1.21E-05
30017 85 E/D 119 rs558277631 0.6824 None gnomAD-3.1.2 2.63E-05
30017 85 E/D 119 rs558277631 0.6824 None 1000 genomes 3.99361E-04
30017 85 E/D 119 rs558277631 0.6824 None gnomAD-4.0.0 4.95723E-06
30017 85 E/K 119 rs1559211738 0.6824 None gnomAD-2.1.1 3.19E-05
30017 85 E/K 119 rs1559211738 0.6824 None gnomAD-4.0.0 1.5913E-06
30018 86 P/H 120 None 0.3464 None gnomAD-4.0.0 6.84209E-07
30018 86 P/L 120 None 0.3464 None gnomAD-4.0.0 6.84209E-07
30018 86 P/R 120 rs772408269 0.3464 None gnomAD-2.1.1 4.02E-06
30018 86 P/R 120 rs772408269 0.3464 None gnomAD-4.0.0 4.78946E-06
30018 86 P/S 120 rs775796355 0.3464 None gnomAD-4.0.0 1.36841E-06
30018 86 P/T 120 rs775796355 0.3464 None gnomAD-2.1.1 8.05E-06
30018 86 P/T 120 rs775796355 0.3464 None gnomAD-4.0.0 4.10524E-06
30019 87 C/R 121 rs774538632 0.1478 None gnomAD-2.1.1 4.02E-06
30019 87 C/R 121 rs774538632 0.1478 None gnomAD-4.0.0 1.59129E-06
30020 88 E/G 122 rs1320043628 0.2934 None gnomAD-2.1.1 4.02E-06
30020 88 E/G 122 rs1320043628 0.2934 None gnomAD-4.0.0 2.05263E-06
30020 88 E/K 122 rs1699956677 0.2934 None gnomAD-4.0.0 1.59127E-06
30022 90 T/I 124 rs771515515 0.8827 None gnomAD-3.1.2 6.57E-06
30022 90 T/I 124 rs771515515 0.8827 None gnomAD-4.0.0 2.02984E-06
30023 91 E/K 125 None 0.7810 None gnomAD-4.0.0 1.59128E-06
30024 92 P/A 126 None 0.3009 None gnomAD-4.0.0 1.36844E-06
30025 93 V/G 127 rs1303810426 0.2574 None gnomAD-3.1.2 6.57E-06
30025 93 V/G 127 rs1303810426 0.2574 None gnomAD-4.0.0 6.57056E-06
30025 93 V/L 127 None 0.2574 None gnomAD-4.0.0 1.20033E-06
30026 94 K/Q 129 None 0.4090 None gnomAD-3.1.2 6.57E-06
30026 94 K/Q 129 None 0.4090 None gnomAD-4.0.0 6.57151E-06
30026 94 K/T 129 rs778228308 0.4090 None gnomAD-2.1.1 4.02E-06
30026 94 K/T 129 rs778228308 0.4090 None gnomAD-4.0.0 3.18248E-06
30027 95 A/S 130 rs1046219672 0.1688 None gnomAD-3.1.2 6.57E-06
30027 95 A/S 130 rs1046219672 0.1688 None gnomAD-4.0.0 2.56208E-06