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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19977 1 P/T 1 rs768561791 0.4899 None gnomAD-2.1.1 8.31E-06
19977 1 P/T 1 rs768561791 0.4899 None gnomAD-4.0.0 1.60914E-06
19978 2 P/A 2 rs1366471902 0.1299 None gnomAD-2.1.1 8.26E-06
19978 2 P/A 2 rs1366471902 0.1299 None gnomAD-4.0.0 3.21447E-06
19978 2 P/L 2 rs1303172310 0.1299 None gnomAD-2.1.1 4.13E-06
19978 2 P/L 2 rs1303172310 0.1299 None gnomAD-4.0.0 4.81012E-06
19980 4 P/A 4 None 0.3429 None gnomAD-4.0.0 1.60523E-06
19981 5 P/L 5 None 0.1082 None gnomAD-4.0.0 1.59822E-06
19984 8 L/M 9 None 0.1408 None gnomAD-4.0.0 6.85192E-07
19984 8 L/P 9 None 0.1408 None gnomAD-4.0.0 1.59401E-06
19985 9 H/Y 11 None 0.3939 None gnomAD-4.0.0 1.59394E-06
19986 10 H/L 12 None 0.4442 None gnomAD-4.0.0 1.20032E-06
19986 10 H/R 12 None 0.4442 None gnomAD-4.0.0 4.80129E-06
19987 11 V/E 13 rs2050279012 0.4285 None gnomAD-4.0.0 1.20032E-06
19988 12 D/V 14 None 0.4789 None gnomAD-4.0.0 3.18477E-06
19989 13 V/A 15 rs778982581 0.2336 None gnomAD-2.1.1 1.79E-05
19989 13 V/A 15 rs778982581 0.2336 None gnomAD-3.1.2 1.31E-05
19989 13 V/A 15 rs778982581 0.2336 None gnomAD-4.0.0 1.36377E-05
19989 13 V/G 15 rs778982581 0.2336 None gnomAD-3.1.2 1.97E-05
19989 13 V/G 15 rs778982581 0.2336 None gnomAD-4.0.0 2.47957E-06
19989 13 V/I 15 rs1021499065 0.2336 None gnomAD-4.0.0 4.10647E-06
19989 13 V/L 15 rs1021499065 0.2336 None gnomAD-4.0.0 6.84412E-07
19990 14 D/E 16 rs757340381 0.2940 None gnomAD-2.1.1 8.07E-06
19990 14 D/E 16 rs757340381 0.2940 None gnomAD-4.0.0 3.18482E-06
19990 14 D/H 16 None 0.2940 None gnomAD-4.0.0 6.00161E-06
19991 15 K/Q 17 None 0.3036 None gnomAD-4.0.0 1.20032E-06
19992 16 T/A 18 None 0.3817 None gnomAD-4.0.0 1.59236E-06
19993 17 E/Q 19 None 0.4085 None gnomAD-4.0.0 2.40064E-06
19994 18 V/D 20 None 0.0940 None gnomAD-4.0.0 1.20032E-06
19995 19 S/F 21 rs1272769120 0.2149 None gnomAD-3.1.2 6.58E-06
19995 19 S/F 21 rs1272769120 0.2149 None gnomAD-4.0.0 2.03014E-06
19996 20 L/R 22 rs1553645358 0.1027 None gnomAD-4.0.0 1.20032E-06
19996 20 L/V 22 rs2050272980 0.1027 None gnomAD-3.1.2 6.58E-06
19996 20 L/V 22 rs2050272980 0.1027 None gnomAD-4.0.0 3.84589E-06
19997 21 V/F 23 None 0.2537 None gnomAD-4.0.0 1.20032E-06
19999 23 N/S 25 rs778293115 0.5146 None gnomAD-2.1.1 4.03E-06
19999 23 N/S 25 rs778293115 0.5146 None gnomAD-4.0.0 4.77692E-06
20001 25 P/L 27 rs727505345 0.1516 None gnomAD-2.1.1 2.5E-05
20001 25 P/L 27 rs727505345 0.1516 None gnomAD-3.1.2 5.26E-05
20001 25 P/L 27 rs727505345 0.1516 None gnomAD-4.0.0 1.5498E-05
20001 25 P/T 27 None 0.1516 None gnomAD-4.0.0 1.20032E-06
20002 26 D/G 28 rs199512049 0.8055 None gnomAD-2.1.1 5.5111E-04
20002 26 D/G 28 rs199512049 0.8055 None gnomAD-3.1.2 3.09052E-04
20002 26 D/G 28 rs199512049 0.8055 None gnomAD-4.0.0 3.13045E-04
20002 26 D/H 28 None 0.8055 None gnomAD-4.0.0 1.20032E-06
20003 27 R/C 29 rs1039014549 0.8325 None gnomAD-2.1.1 4.03E-06
20003 27 R/C 29 rs1039014549 0.8325 None gnomAD-3.1.2 2.63E-05
20003 27 R/C 29 rs1039014549 0.8325 None gnomAD-4.0.0 9.91863E-06
20003 27 R/G 29 rs1039014549 0.8325 None gnomAD-2.1.1 4.03E-06
20003 27 R/G 29 rs1039014549 0.8325 None gnomAD-4.0.0 1.36882E-06
20003 27 R/H 29 rs756091180 0.8325 None gnomAD-2.1.1 1.79E-05
20003 27 R/H 29 rs756091180 0.8325 None gnomAD-3.1.2 3.29E-05
20003 27 R/H 29 rs756091180 0.8325 None gnomAD-4.0.0 2.41762E-05
20003 27 R/P 29 None 0.8325 None gnomAD-4.0.0 6.84407E-07
20004 28 D/G 30 rs1343530077 0.3258 None gnomAD-2.1.1 4.03E-06
20004 28 D/G 30 rs1343530077 0.3258 None gnomAD-4.0.0 2.73763E-06
20004 28 D/N 30 None 0.3258 None gnomAD-4.0.0 1.20032E-06
20005 29 G/A 31 rs1280304121 0.3838 None gnomAD-3.1.2 6.57E-06
20005 29 G/A 31 rs1280304121 0.3838 None gnomAD-4.0.0 6.57497E-06
20005 29 G/D 31 rs1280304121 0.3838 None gnomAD-2.1.1 8.06E-06
20005 29 G/D 31 rs1280304121 0.3838 None gnomAD-4.0.0 4.10644E-06
20006 30 G/A 32 None 0.6550 None gnomAD-4.0.0 2.05322E-06
20006 30 G/C 32 None 0.6550 None gnomAD-4.0.0 1.59231E-06
20008 32 P/L 34 rs199839492 0.6938 None gnomAD-2.1.1 1.21E-05
20008 32 P/L 34 rs199839492 0.6938 None gnomAD-3.1.2 6.58E-06
20008 32 P/L 34 rs199839492 0.6938 None gnomAD-4.0.0 5.57924E-06
20009 33 I/V 35 rs371988490 0.1992 None gnomAD-2.1.1 1.43E-05
20009 33 I/V 35 rs371988490 0.1992 None gnomAD-3.1.2 5.92E-05
20009 33 I/V 35 rs371988490 0.1992 None gnomAD-4.0.0 1.66646E-05
20010 34 T/P 36 None 0.4837 None gnomAD-4.0.0 1.59233E-06
20012 36 Y/H 38 None 0.0978 None gnomAD-4.0.0 1.5923E-06
20012 36 Y/N 38 None 0.0978 None gnomAD-4.0.0 1.5923E-06
20013 37 L/S 39 rs2050262481 0.1656 None gnomAD-3.1.2 6.58E-06
20013 37 L/S 39 rs2050262481 0.1656 None gnomAD-4.0.0 6.57903E-06
20015 39 E/D 41 rs575796706 0.1079 None gnomAD-2.1.1 2.5E-05
20015 39 E/D 41 rs575796706 0.1079 None gnomAD-3.1.2 3.95E-05
20015 39 E/D 41 rs575796706 0.1079 None 1000 genomes 1.99681E-04
20015 39 E/D 41 rs575796706 0.1079 None gnomAD-4.0.0 1.9215E-05
20015 39 E/Q 41 None 0.1079 None gnomAD-4.0.0 3.18462E-06
20015 39 E/V 41 rs2050261843 0.1079 None gnomAD-4.0.0 2.05317E-06
20016 40 Y/H 42 rs1186164600 0.2275 None gnomAD-2.1.1 3.19E-05
20016 40 Y/H 42 rs1186164600 0.2275 None gnomAD-3.1.2 1.32E-05
20016 40 Y/H 42 rs1186164600 0.2275 None gnomAD-4.0.0 1.31544E-05
20019 43 E/A 50 None 0.4261 None gnomAD-4.0.0 6.8439E-07
20019 43 E/D 50 rs1342395614 0.4261 None gnomAD-4.0.0 6.84391E-06
20019 43 E/G 50 rs1301342171 0.4261 None gnomAD-4.0.0 6.8439E-06
20019 43 E/K 50 rs201487340 0.4261 None gnomAD-2.1.1 1.49528E-03
20019 43 E/K 50 rs201487340 0.4261 None gnomAD-3.1.2 4.11157E-03
20019 43 E/K 50 rs201487340 0.4261 None 1000 genomes 1.79712E-03
20019 43 E/K 50 rs201487340 0.4261 None gnomAD-4.0.0 7.9093E-04
20020 44 G/D 54 rs1430427636 0.6615 None gnomAD-2.1.1 7.15E-06
20020 44 G/D 54 rs1430427636 0.6615 None gnomAD-3.1.2 6.58E-06
20020 44 G/D 54 rs1430427636 0.6615 None gnomAD-4.0.0 3.71945E-06
20021 45 T/I 60 rs760706351 0.3938 None gnomAD-2.1.1 2.5E-05
20021 45 T/I 60 rs760706351 0.3938 None gnomAD-3.1.2 6.58E-06
20021 45 T/I 60 rs760706351 0.3938 None gnomAD-4.0.0 4.3394E-06
20021 45 T/N 60 rs760706351 0.3938 None gnomAD-2.1.1 4.03E-06
20021 45 T/N 60 rs760706351 0.3938 None gnomAD-4.0.0 6.84379E-07
20021 45 T/S 60 rs1374902089 0.3938 None gnomAD-2.1.1 4.03E-06
20021 45 T/S 60 rs1374902089 0.3938 None gnomAD-4.0.0 1.59217E-06
20022 46 Q/E 63 None 0.9587 None gnomAD-4.0.0 1.59214E-06
20023 47 D/E 64 rs2050254249 0.8447 None gnomAD-4.0.0 1.59211E-06
20023 47 D/V 64 None 0.8447 None gnomAD-4.0.0 2.40064E-06
20024 48 W/C 65 None 0.2224 None gnomAD-4.0.0 4.10614E-06
20024 48 W/L 65 None 0.2224 None gnomAD-4.0.0 7.20193E-06
20024 48 W/R 65 None 0.2224 None gnomAD-4.0.0 7.20193E-06
20027 51 F/C 68 None 0.2681 None gnomAD-4.0.0 6.00161E-06
20027 51 F/L 68 rs1184403397 0.2681 None gnomAD-2.1.1 3.19E-05
20027 51 F/L 68 rs1184403397 0.2681 None gnomAD-3.1.2 6.58E-06
20027 51 F/L 68 rs1184403397 0.2681 None gnomAD-4.0.0 3.09937E-06
20028 52 K/N 69 None 0.5608 None gnomAD-4.0.0 1.20032E-06
20029 53 T/I 72 None 0.3573 None gnomAD-4.0.0 6.84351E-07
20029 53 T/N 72 rs2050252504 0.3573 None gnomAD-3.1.2 6.58E-06
20029 53 T/N 72 rs2050252504 0.3573 None gnomAD-4.0.0 2.47957E-06
20030 54 V/L 77 rs775292311 0.1641 None gnomAD-2.1.1 4.02E-06
20030 54 V/L 77 rs775292311 0.1641 None gnomAD-4.0.0 1.59209E-06
20030 54 V/M 77 rs775292311 0.1641 None gnomAD-2.1.1 4.02E-06
20030 54 V/M 77 rs775292311 0.1641 None gnomAD-4.0.0 1.59209E-06
20031 55 T/A 83 rs771797161 0.7562 None gnomAD-2.1.1 1.21E-05
20031 55 T/A 83 rs771797161 0.7562 None gnomAD-4.0.0 4.79044E-06
20031 55 T/K 83 rs1172877818 0.7562 None gnomAD-2.1.1 4.02E-06
20031 55 T/K 83 rs1172877818 0.7562 None gnomAD-4.0.0 1.59204E-06
20032 56 N/D 88 rs1230376061 0.5737 None gnomAD-3.1.2 6.58E-06
20032 56 N/D 88 rs1230376061 0.5737 None gnomAD-4.0.0 3.09934E-06
20032 56 N/I 88 None 0.5737 None gnomAD-4.0.0 1.20032E-06
20033 57 L/V 89 rs878993043 0.2249 None gnomAD-2.1.1 8.05E-06
20033 57 L/V 89 rs878993043 0.2249 None gnomAD-3.1.2 2.63E-05
20033 57 L/V 89 rs878993043 0.2249 None gnomAD-4.0.0 1.02556E-05
20034 58 E/D 90 None 0.5255 None gnomAD-4.0.0 2.40064E-06
20034 58 E/G 90 None 0.5255 None gnomAD-4.0.0 1.20033E-06
20034 58 E/Q 90 rs746056036 0.5255 None gnomAD-2.1.1 3.22E-05
20034 58 E/Q 90 rs746056036 0.5255 None gnomAD-3.1.2 6.58E-06
20034 58 E/Q 90 rs746056036 0.5255 None gnomAD-4.0.0 5.57843E-06
20035 59 C/F 91 rs774488793 0.1343 None gnomAD-2.1.1 8.05E-06
20035 59 C/F 91 rs774488793 0.1343 None gnomAD-3.1.2 6.58E-06
20035 59 C/F 91 rs774488793 0.1343 None gnomAD-4.0.0 5.57882E-06
20035 59 C/R 91 None 0.1343 None gnomAD-4.0.0 2.40065E-06
20035 59 C/Y 91 rs774488793 0.1343 None gnomAD-2.1.1 6.38E-05
20035 59 C/Y 91 rs774488793 0.1343 None gnomAD-3.1.2 1.32E-05
20035 59 C/Y 91 rs774488793 0.1343 None gnomAD-4.0.0 1.85961E-06
20037 61 V/F 93 rs749438176 0.0831 None gnomAD-2.1.1 3.57E-05
20037 61 V/F 93 rs749438176 0.0831 None gnomAD-3.1.2 1.97E-05
20037 61 V/F 93 rs749438176 0.0831 None gnomAD-4.0.0 7.69105E-06
20037 61 V/L 93 rs749438176 0.0831 None gnomAD-2.1.1 7.14E-06
20037 61 V/L 93 rs749438176 0.0831 None gnomAD-3.1.2 6.58E-06
20037 61 V/L 93 rs749438176 0.0831 None gnomAD-4.0.0 2.56368E-06
20038 62 T/A 94 None 0.3946 None gnomAD-4.0.0 1.59194E-06
20038 62 T/I 94 None 0.3946 None gnomAD-4.0.0 1.20032E-06
20039 63 G/R 96 rs2050244000 0.5245 None gnomAD-4.0.0 1.59195E-06
20039 63 G/V 96 None 0.5245 None gnomAD-4.0.0 1.20032E-06
20040 64 L/I 97 rs1209430010 0.1163 None gnomAD-2.1.1 4.02E-06
20040 64 L/I 97 rs1209430010 0.1163 None gnomAD-4.0.0 6.84337E-07
20042 66 Q/H 99 None 0.5608 None gnomAD-4.0.0 1.59198E-06
20044 68 K/E 102 rs1223532991 0.3329 None gnomAD-2.1.1 4.02E-06
20044 68 K/E 102 rs1223532991 0.3329 None gnomAD-4.0.0 1.5919E-06
20046 70 Y/F 104 rs1290494704 0.0943 None gnomAD-2.1.1 4.02E-06
20046 70 Y/F 104 rs1290494704 0.0943 None gnomAD-4.0.0 1.5919E-06
20047 71 R/K 105 rs371060708 0.3788 None gnomAD-2.1.1 2.01E-05
20047 71 R/K 105 rs371060708 0.3788 None gnomAD-3.1.2 4.6E-05
20047 71 R/K 105 rs371060708 0.3788 None gnomAD-4.0.0 8.2439E-05
20049 73 R/C 107 rs748606401 0.1208 None gnomAD-2.1.1 3.22E-05
20049 73 R/C 107 rs748606401 0.1208 None gnomAD-3.1.2 1.32E-05
20049 73 R/C 107 rs748606401 0.1208 None gnomAD-4.0.0 1.85965E-05
20049 73 R/H 107 rs200455644 0.1208 None gnomAD-2.1.1 1.143E-04
20049 73 R/H 107 rs200455644 0.1208 None gnomAD-3.1.2 8.55E-05
20049 73 R/H 107 rs200455644 0.1208 None gnomAD-4.0.0 1.01655E-04
20051 75 K/R 109 None 0.1561 None gnomAD-4.0.0 1.20032E-06
20053 77 E/G 111 None 0.2899 None gnomAD-4.0.0 1.20032E-06
20054 78 N/D 112 rs1244081106 0.1018 None gnomAD-2.1.1 3.19E-05
20054 78 N/D 112 rs1244081106 0.1018 None gnomAD-3.1.2 6.58E-06
20054 78 N/D 112 rs1244081106 0.1018 None gnomAD-4.0.0 6.57557E-06
20054 78 N/S 112 None 0.1018 None gnomAD-4.0.0 1.20032E-06
20055 79 I/T 113 rs755318489 0.7350 None gnomAD-2.1.1 4.02E-06
20055 79 I/T 113 rs755318489 0.7350 None gnomAD-4.0.0 4.10596E-06
20055 79 I/V 113 rs1445750788 0.7350 None gnomAD-2.1.1 4.02E-06
20055 79 I/V 113 rs1445750788 0.7350 None gnomAD-3.1.2 6.58E-06
20055 79 I/V 113 rs1445750788 0.7350 None gnomAD-4.0.0 2.47928E-05
20057 81 G/D 115 None 0.1917 None gnomAD-4.0.0 6.8433E-07
20057 81 G/V 115 rs750064931 0.1917 None gnomAD-2.1.1 4.02E-06
20057 81 G/V 115 rs750064931 0.1917 None gnomAD-4.0.0 2.05299E-06
20058 82 L/F 117 rs2050227759 0.3991 None gnomAD-4.0.0 1.59194E-06
20059 83 G/R 118 rs778467153 0.1596 None gnomAD-4.0.0 1.59198E-06
20059 83 G/S 118 None 0.1596 None gnomAD-2.1.1 4.02E-06
20059 83 G/S 118 None 0.1596 None gnomAD-4.0.0 1.59198E-06
20060 84 L/H 119 rs143364796 0.8243 None gnomAD-2.1.1 4.02E-06
20060 84 L/H 119 rs143364796 0.8243 None gnomAD-3.1.2 1.97E-05
20060 84 L/H 119 rs143364796 0.8243 None 1000 genomes 1.99681E-04
20060 84 L/H 119 rs143364796 0.8243 None gnomAD-4.0.0 1.48747E-05
20060 84 L/I 119 rs756818819 0.8243 None gnomAD-2.1.1 1.21E-05
20060 84 L/I 119 rs756818819 0.8243 None gnomAD-4.0.0 1.59199E-06
20061 85 P/L 120 None 0.3047 None gnomAD-4.0.0 1.20032E-06
20062 86 D/E 121 rs1403249185 0.2238 None gnomAD-3.1.2 6.57E-06
20062 86 D/E 121 rs1403249185 0.2238 None gnomAD-4.0.0 6.57462E-06
20062 86 D/N 121 rs2050223526 0.2238 None gnomAD-4.0.0 1.59204E-06
20063 87 T/I 122 None 0.3044 None gnomAD-4.0.0 6.84367E-07
20063 87 T/K 122 None 0.3044 None gnomAD-4.0.0 2.73747E-06
20063 87 T/R 122 rs1560220 0.3044 None gnomAD-2.1.1 1.61E-05
20063 87 T/R 122 rs1560220 0.3044 None gnomAD-4.0.0 3.42184E-06
20064 88 T/A 124 None 0.1577 None gnomAD-4.0.0 1.59225E-06
20065 89 I/L 125 None 0.7572 None gnomAD-4.0.0 1.5923E-06
20066 90 P/L 126 rs750217838 0.3270 None gnomAD-2.1.1 7.52E-05
20066 90 P/L 126 rs750217838 0.3270 None gnomAD-3.1.2 1.11816E-04
20066 90 P/L 126 rs750217838 0.3270 None gnomAD-4.0.0 4.4029E-05
20066 90 P/S 126 None 0.3270 None gnomAD-4.0.0 2.73766E-06
20067 91 I/T 127 rs373690962 0.1332 None gnomAD-2.1.1 1.61E-05
20067 91 I/T 127 rs373690962 0.1332 None gnomAD-3.1.2 1.31E-05
20067 91 I/T 127 rs373690962 0.1332 None gnomAD-4.0.0 4.96079E-06
20068 92 E/D 129 rs774629592 0.4584 None gnomAD-2.1.1 4.04E-06
20068 92 E/D 129 rs774629592 0.4584 None gnomAD-3.1.2 6.57E-06
20068 92 E/D 129 rs774629592 0.4584 None gnomAD-4.0.0 6.57471E-06
20068 92 E/K 129 rs759291854 0.4584 None gnomAD-2.1.1 4.04E-06
20068 92 E/K 129 rs759291854 0.4584 None gnomAD-4.0.0 2.05446E-06
20068 92 E/Q 129 rs759291854 0.4584 None gnomAD-2.1.1 4.04E-06
20068 92 E/Q 129 rs759291854 0.4584 None gnomAD-3.1.2 2.63E-05
20068 92 E/Q 129 rs759291854 0.4584 None gnomAD-4.0.0 2.6303E-05
20069 93 C/R 130 rs771201679 0.0856 None gnomAD-2.1.1 1.21E-05
20069 93 C/R 130 rs771201679 0.0856 None gnomAD-3.1.2 3.95E-05
20069 93 C/R 130 rs771201679 0.0856 None gnomAD-4.0.0 2.41953E-05
20069 93 C/S 130 rs763176338 0.0856 None gnomAD-2.1.1 4.05E-06
20069 93 C/S 130 rs763176338 0.0856 None gnomAD-4.0.0 1.59649E-06
20070 94 Q/H 131 rs1204026103 0.4947 None gnomAD-4.0.0 1.20032E-06
20071 95 E/A 132 rs773208927 0.6817 None gnomAD-2.1.1 2.03E-05
20071 95 E/A 132 rs773208927 0.6817 None gnomAD-3.1.2 1.31E-05
20071 95 E/A 132 rs773208927 0.6817 None gnomAD-4.0.0 1.48989E-05
20071 95 E/G 132 None 0.6817 None gnomAD-4.0.0 6.85515E-07