Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3938 1 P/S 1 rs866702787 0.2176 None gnomAD-4.0.0 9.60257E-06
3939 2 H/P 2 None 0.6234 None gnomAD-4.0.0 1.20032E-06
3939 2 H/Y 2 None 0.6234 None gnomAD-4.0.0 1.59108E-06
3940 3 F/L 3 rs1170680046 0.1589 None gnomAD-2.1.1 4.02E-06
3940 3 F/L 3 rs1170680046 0.1589 None gnomAD-4.0.0 1.59107E-06
3941 4 L/H 4 None 0.6734 None gnomAD-4.0.0 1.5911E-06
3942 5 K/E 5 rs2082461755 0.2981 None gnomAD-4.0.0 3.60097E-06
3944 7 L/S 8 None 0.1764 None gnomAD-4.0.0 1.36835E-06
3946 9 P/L 11 None 0.5197 None gnomAD-4.0.0 1.59107E-06
3946 9 P/S 11 rs970485392 0.5197 None gnomAD-2.1.1 4.02E-06
3946 9 P/S 11 rs970485392 0.5197 None gnomAD-3.1.2 2.63E-05
3946 9 P/S 11 rs970485392 0.5197 None gnomAD-4.0.0 4.33771E-06
3946 9 P/T 11 rs970485392 0.5197 None gnomAD-4.0.0 4.10504E-06
3947 10 I/M 13 None 0.1563 None gnomAD-4.0.0 1.59106E-06
3948 11 R/C 14 rs397517827 0.7845 None gnomAD-2.1.1 2.05215E-04
3948 11 R/C 14 rs397517827 0.7845 None gnomAD-3.1.2 1.18314E-04
3948 11 R/C 14 rs397517827 0.7845 None gnomAD-4.0.0 1.31981E-04
3948 11 R/G 14 None 0.7845 None gnomAD-4.0.0 6.84175E-07
3948 11 R/H 14 rs775618077 0.7845 None gnomAD-2.1.1 3.93E-05
3948 11 R/H 14 rs775618077 0.7845 None gnomAD-3.1.2 2.63E-05
3948 11 R/H 14 rs775618077 0.7845 None gnomAD-4.0.0 1.98304E-05
3948 11 R/L 14 rs775618077 0.7845 None gnomAD-4.0.0 4.10505E-06
3949 12 C/R 16 None 0.1777 None gnomAD-4.0.0 1.59106E-06
3949 12 C/Y 16 None 0.1777 None gnomAD-4.0.0 5.47339E-06
3950 13 A/T 18 rs1254502584 0.3749 None gnomAD-2.1.1 8.05E-06
3950 13 A/T 18 rs1254502584 0.3749 None gnomAD-4.0.0 4.77319E-06
3950 13 A/V 18 rs1206322976 0.3749 None gnomAD-2.1.1 4.02E-06
3950 13 A/V 18 rs1206322976 0.3749 None gnomAD-4.0.0 1.59108E-06
3952 15 G/E 24 rs779033634 0.3283 None gnomAD-2.1.1 1.21E-05
3952 15 G/E 24 rs779033634 0.3283 None gnomAD-3.1.2 4.6E-05
3952 15 G/E 24 rs779033634 0.3283 None gnomAD-4.0.0 6.81663E-06
3952 15 G/R 24 rs772014276 0.3283 None gnomAD-2.1.1 4.02E-06
3952 15 G/R 24 rs772014276 0.3283 None gnomAD-4.0.0 1.59109E-06
3952 15 G/V 24 rs779033634 0.3283 None gnomAD-2.1.1 8.05E-06
3952 15 G/V 24 rs779033634 0.3283 None gnomAD-4.0.0 2.05253E-06
3954 17 P/L 26 rs1287785786 0.4635 None gnomAD-2.1.1 8.05E-06
3954 17 P/L 26 rs1287785786 0.4635 None gnomAD-4.0.0 3.42089E-06
3954 17 P/S 26 rs757223770 0.4635 None gnomAD-2.1.1 4.02E-06
3954 17 P/S 26 rs757223770 0.4635 None gnomAD-4.0.0 1.59107E-06
3955 18 A/P 28 None 0.1209 None gnomAD-4.0.0 1.59107E-06
3955 18 A/S 28 rs1352554984 0.1209 None gnomAD-2.1.1 7.14E-06
3955 18 A/S 28 rs1352554984 0.1209 None gnomAD-4.0.0 3.18215E-06
3956 19 I/T 29 rs1156715113 0.4729 None gnomAD-3.1.2 6.57E-06
3956 19 I/T 29 rs1156715113 0.4729 None gnomAD-4.0.0 6.81622E-06
3956 19 I/V 29 rs2154318798 0.4729 None gnomAD-3.1.2 6.57E-06
3956 19 I/V 29 rs2154318798 0.4729 None gnomAD-4.0.0 6.56573E-06
3957 20 F/L 30 None 0.1007 None gnomAD-4.0.0 3.18214E-06
3958 21 E/K 31 None 0.4971 None gnomAD-4.0.0 6.84175E-07
3960 23 T/P 34 rs1487929859 0.2045 None gnomAD-2.1.1 3.19E-05
3960 23 T/P 34 rs1487929859 0.2045 None gnomAD-3.1.2 6.57E-06
3960 23 T/P 34 rs1487929859 0.2045 None gnomAD-4.0.0 2.56189E-06
3961 24 V/M 35 rs1017307763 0.1302 None gnomAD-4.0.0 2.05252E-06
3963 26 G/R 40 rs1000514079 0.2177 None gnomAD-3.1.2 6.57E-06
3963 26 G/R 40 rs1000514079 0.2177 None gnomAD-4.0.0 6.57298E-06
3964 27 E/D 41 rs1410220479 0.6746 None gnomAD-2.1.1 8.05E-06
3964 27 E/D 41 rs1410220479 0.6746 None gnomAD-4.0.0 2.73669E-06
3964 27 E/Q 41 None 0.6746 None gnomAD-4.0.0 1.20032E-06
3964 27 E/V 41 rs756497264 0.6746 None gnomAD-4.0.0 1.59106E-06
3966 29 A/D 43 None 0.5713 None gnomAD-4.0.0 1.20032E-06
3967 30 P/A 44 None 0.1876 None gnomAD-4.0.0 1.59105E-06
3968 31 T/A 45 rs540085214 0.5815 None gnomAD-2.1.1 8.05E-06
3968 31 T/A 45 rs540085214 0.5815 None gnomAD-3.1.2 2.63E-05
3968 31 T/A 45 rs540085214 0.5815 None gnomAD-4.0.0 8.67553E-06
3968 31 T/I 45 rs1416083040 0.5815 None gnomAD-2.1.1 4.03E-06
3968 31 T/I 45 rs1416083040 0.5815 None gnomAD-4.0.0 1.59107E-06
3969 32 V/I 46 rs754991360 0.2303 None gnomAD-2.1.1 4.03E-06
3969 32 V/I 46 rs754991360 0.2303 None gnomAD-3.1.2 6.57E-06
3969 32 V/I 46 rs754991360 0.2303 None gnomAD-4.0.0 3.71813E-06
3969 32 V/L 46 rs754991360 0.2303 None gnomAD-4.0.0 8.89428E-06
3970 33 T/A 47 rs767950309 0.2951 None gnomAD-2.1.1 4.02E-06
3970 33 T/A 47 rs767950309 0.2951 None gnomAD-4.0.0 1.5911E-06
3970 33 T/I 47 None 0.2951 None gnomAD-4.0.0 1.20032E-06
3971 34 W/C 48 rs749961489 0.1110 None gnomAD-2.1.1 4.03E-06
3971 34 W/C 48 rs749961489 0.1110 None gnomAD-4.0.0 6.84174E-07
3971 34 W/R 48 None 0.1110 None gnomAD-4.0.0 3.42087E-06
3972 35 F/S 49 None 0.2024 None gnomAD-4.0.0 1.59108E-06
3977 40 Q/R 56 None 0.4329 None gnomAD-4.0.0 1.20032E-06
3978 41 L/F 58 rs1472692011 0.1555 None gnomAD-2.1.1 4.02E-06
3978 41 L/F 58 rs1472692011 0.1555 None gnomAD-4.0.0 1.59108E-06
3978 41 L/P 58 None 0.1555 None gnomAD-4.0.0 8.40225E-06
3978 41 L/R 58 None 0.1555 None gnomAD-4.0.0 2.40064E-06
3979 42 C/R 59 None 0.6146 None gnomAD-4.0.0 8.40227E-06
3980 43 T/I 70 rs372298992 0.4801 None gnomAD-2.1.1 4.02E-06
3980 43 T/I 70 rs372298992 0.4801 None gnomAD-4.0.0 1.59116E-06
3980 43 T/S 70 rs1278282821 0.4801 None gnomAD-2.1.1 4.02E-06
3980 43 T/S 70 rs1278282821 0.4801 None gnomAD-3.1.2 1.31E-05
3980 43 T/S 70 rs1278282821 0.4801 None gnomAD-4.0.0 3.84282E-06
3981 44 S/T 73 rs761366397 0.2297 None gnomAD-2.1.1 4.02E-06
3981 44 S/T 73 rs761366397 0.2297 None gnomAD-4.0.0 3.18219E-06
3982 45 V/I 102 rs1032555583 0.6247 None gnomAD-4.0.0 4.10507E-06
3984 47 Y/F 121 rs776443623 0.2135 None gnomAD-2.1.1 4.02E-06
3984 47 Y/F 121 rs776443623 0.2135 None gnomAD-4.0.0 1.59114E-06
3984 47 Y/H 121 rs1263949163 0.2135 None gnomAD-2.1.1 3.18E-05
3984 47 Y/H 121 rs1263949163 0.2135 None gnomAD-3.1.2 6.57E-06
3984 47 Y/H 121 rs1263949163 0.2135 None gnomAD-4.0.0 2.56182E-06
3985 48 T/I 122 None 0.3058 None gnomAD-4.0.0 1.59118E-06
3986 49 I/S 123 rs760585458 0.2456 None gnomAD-2.1.1 4.02E-06
3986 49 I/S 123 rs760585458 0.2456 None gnomAD-4.0.0 2.05257E-06
3986 49 I/V 123 rs763816587 0.2456 None gnomAD-2.1.1 4.02E-06
3986 49 I/V 123 rs763816587 0.2456 None gnomAD-3.1.2 6.57E-06
3986 49 I/V 123 rs763816587 0.2456 None gnomAD-4.0.0 6.56996E-06
3987 50 I/V 125 rs551387805 0.3291 None gnomAD-2.1.1 2.13292E-04
3987 50 I/V 125 rs551387805 0.3291 None gnomAD-3.1.2 3.29E-05
3987 50 I/V 125 rs551387805 0.3291 None 1000 genomes 1.99681E-04
3987 50 I/V 125 rs551387805 0.3291 None gnomAD-4.0.0 1.1215E-04
3988 51 H/P 127 None 0.4480 None gnomAD-4.0.0 6.84195E-07
3988 51 H/R 127 rs1406738761 0.4480 None gnomAD-2.1.1 1.07E-05
3988 51 H/R 127 rs1406738761 0.4480 None gnomAD-3.1.2 1.97E-05
3988 51 H/R 127 rs1406738761 0.4480 None gnomAD-4.0.0 6.19659E-06
3988 51 H/Y 127 rs749409521 0.4480 None gnomAD-2.1.1 1.21E-05
3988 51 H/Y 127 rs749409521 0.4480 None gnomAD-4.0.0 2.25786E-05
3989 52 N/S 128 None 0.3514 None gnomAD-4.0.0 1.20032E-06
3990 53 P/H 130 rs33971253 0.9225 None gnomAD-3.1.2 6.57E-06
3990 53 P/H 130 rs33971253 0.9225 None gnomAD-4.0.0 1.2394E-06
3990 53 P/L 130 rs33971253 0.9225 None gnomAD-2.1.1 6.42171E-03
3990 53 P/L 130 rs33971253 0.9225 None gnomAD-3.1.2 6.40074E-03
3990 53 P/L 130 rs33971253 0.9225 None 1000 genomes 2.79553E-03
3990 53 P/L 130 rs33971253 0.9225 None gnomAD-4.0.0 1.00365E-02
3990 53 P/T 130 None 0.9225 None gnomAD-4.0.0 1.59127E-06
3991 54 N/S 131 rs1248393743 0.6393 None gnomAD-3.1.2 6.57E-06
3991 54 N/S 131 rs1248393743 0.6393 None gnomAD-4.0.0 3.09863E-06
3992 55 G/S 134 rs774085575 0.1651 None gnomAD-2.1.1 2.14E-05
3992 55 G/S 134 rs774085575 0.1651 None gnomAD-3.1.2 6.57E-06
3992 55 G/S 134 rs774085575 0.1651 None gnomAD-4.0.0 1.7972E-05
3993 56 S/P 135 rs771077873 0.2196 None gnomAD-2.1.1 4.03E-06
3993 56 S/P 135 rs771077873 0.2196 None gnomAD-4.0.0 3.18292E-06
3995 58 T/A 137 None 0.2259 None gnomAD-4.0.0 1.20032E-06
3995 58 T/I 137 rs749320093 0.2259 None gnomAD-2.1.1 1.21E-05
3995 58 T/I 137 rs749320093 0.2259 None gnomAD-3.1.2 6.57E-06
3995 58 T/I 137 rs749320093 0.2259 None gnomAD-4.0.0 6.81721E-06
3996 59 F/I 138 None 0.0626 None gnomAD-4.0.0 2.0528E-06
3996 59 F/L 138 rs1247960779 0.0626 None gnomAD-2.1.1 4.03E-06
3996 59 F/L 138 rs1247960779 0.0626 None gnomAD-4.0.0 1.59171E-06
3996 59 F/S 138 rs778023038 0.0626 None gnomAD-2.1.1 4.03E-06
3999 62 N/S 141 rs199844346 0.2546 None gnomAD-2.1.1 1.39462E-04
3999 62 N/S 141 rs199844346 0.2546 None gnomAD-3.1.2 9.86E-05
3999 62 N/S 141 rs199844346 0.2546 None gnomAD-4.0.0 7.8086E-05
4000 63 D/E 143 None 0.6047 None gnomAD-4.0.0 6.84355E-07
4000 63 D/G 143 rs938144456 0.6047 None gnomAD-4.0.0 1.59183E-06
4001 64 P/R 144 rs1292211761 0.1136 None gnomAD-2.1.1 4.03E-06
4001 64 P/R 144 rs1292211761 0.1136 None gnomAD-4.0.0 4.77625E-06
4001 64 P/T 144 rs1320141997 0.1136 None gnomAD-2.1.1 4.03E-06
4001 64 P/T 144 rs1320141997 0.1136 None gnomAD-4.0.0 1.592E-06
4002 65 Q/E 145 None 0.2510 None gnomAD-4.0.0 1.59216E-06
4003 66 R/K 146 None 0.7616 None gnomAD-4.0.0 1.59205E-06
4004 67 E/G 148 rs376000381 0.5058 None gnomAD-2.1.1 3.22E-05
4004 67 E/G 148 rs376000381 0.5058 None gnomAD-3.1.2 1.18309E-04
4004 67 E/G 148 rs376000381 0.5058 None gnomAD-4.0.0 1.7975E-05
4004 67 E/K 148 rs755242569 0.5058 None gnomAD-2.1.1 4.03E-06
4004 67 E/K 148 rs755242569 0.5058 None gnomAD-4.0.0 1.09501E-05
4005 68 D/A 149 None 0.2263 None gnomAD-4.0.0 1.59219E-06
4005 68 D/G 149 rs1432768583 0.2263 None gnomAD-2.1.1 4.03E-06
4005 68 D/G 149 rs1432768583 0.2263 None gnomAD-3.1.2 6.57E-06
4005 68 D/G 149 rs1432768583 0.2263 None gnomAD-4.0.0 6.57125E-06
4006 69 S/G 151 rs1391193598 0.2345 None gnomAD-3.1.2 1.31E-05
4006 69 S/G 151 rs1391193598 0.2345 None gnomAD-4.0.0 3.04478E-06
4006 69 S/N 151 rs1366799021 0.2345 None gnomAD-2.1.1 1.21E-05
4006 69 S/N 151 rs1366799021 0.2345 None gnomAD-3.1.2 6.57E-06
4006 69 S/N 151 rs1366799021 0.2345 None gnomAD-4.0.0 5.1269E-06
4006 69 S/R 151 rs780375598 0.2345 None gnomAD-2.1.1 4.03E-06
4006 69 S/R 151 rs780375598 0.2345 None gnomAD-4.0.0 1.20032E-06
4007 70 G/D 152 rs940658679 0.2507 None gnomAD-2.1.1 7.16E-06
4007 70 G/D 152 rs940658679 0.2507 None gnomAD-3.1.2 6.57E-06
4007 70 G/D 152 rs940658679 0.2507 None gnomAD-4.0.0 2.56384E-06
4008 71 L/H 153 None 0.4783 None gnomAD-4.0.0 1.20032E-06
4009 72 Y/C 154 rs753367343 0.1002 None gnomAD-2.1.1 1.21E-05
4009 72 Y/C 154 rs753367343 0.1002 None gnomAD-4.0.0 3.42219E-06
4009 72 Y/H 154 rs1166395538 0.1002 None gnomAD-2.1.1 4.03E-06
4009 72 Y/H 154 rs1166395538 0.1002 None gnomAD-4.0.0 1.59249E-06
4012 75 K/N 157 rs763904872 0.2256 None gnomAD-2.1.1 4.03E-06
4012 75 K/N 157 rs763904872 0.2256 None gnomAD-4.0.0 1.59246E-06
4013 76 A/T 158 rs397517828 0.0836 None gnomAD-4.0.0 1.5925E-06
4016 79 M/I 162 rs528996964 0.6760 None gnomAD-2.1.1 4.29E-05
4016 79 M/I 162 rs528996964 0.6760 None gnomAD-3.1.2 6.57E-06
4016 79 M/I 162 rs528996964 0.6760 None 1000 genomes 1.99681E-04
4016 79 M/I 162 rs528996964 0.6760 None gnomAD-4.0.0 1.85941E-06
4016 79 M/T 162 rs760386971 0.6760 None gnomAD-2.1.1 4.03E-06
4016 79 M/T 162 rs760386971 0.6760 None gnomAD-4.0.0 4.77699E-06
4016 79 M/V 162 rs908523887 0.6760 None gnomAD-2.1.1 1.21E-05
4016 79 M/V 162 rs908523887 0.6760 None gnomAD-4.0.0 6.36949E-06
4017 80 L/F 163 None 0.7652 None gnomAD-4.0.0 2.05325E-06
4017 80 L/S 163 rs1487515911 0.7652 None gnomAD-2.1.1 4.03E-06
4017 80 L/S 163 rs1487515911 0.7652 None gnomAD-4.0.0 1.5923E-06
4017 80 L/V 163 rs367635055 0.7652 None gnomAD-2.1.1 6.8E-05
4017 80 L/V 163 rs367635055 0.7652 None gnomAD-3.1.2 1.64264E-04
4017 80 L/V 163 rs367635055 0.7652 None gnomAD-4.0.0 2.41737E-05
4018 81 G/D 164 None 0.3099 None gnomAD-4.0.0 2.73761E-06
4018 81 G/S 164 rs759214389 0.3099 None gnomAD-2.1.1 1.21E-05
4018 81 G/S 164 rs759214389 0.3099 None gnomAD-4.0.0 4.77748E-06
4019 82 E/K 165 None 0.6204 None gnomAD-4.0.0 4.77686E-06
4020 83 S/Y 166 rs1273620132 0.1940 None gnomAD-2.1.1 4.03E-06
4020 83 S/Y 166 rs1273620132 0.1940 None gnomAD-4.0.0 2.73764E-06
4021 84 T/S 168 rs770837770 0.5645 None gnomAD-2.1.1 1.61E-05
4021 84 T/S 168 rs770837770 0.5645 None gnomAD-4.0.0 1.59215E-06
4022 85 C/W 169 rs931245340 0.1309 None gnomAD-4.0.0 3.42177E-06
4022 85 C/Y 169 rs2082415134 0.1309 None gnomAD-3.1.2 6.57E-06
4022 85 C/Y 169 rs2082415134 0.1309 None gnomAD-4.0.0 6.57281E-06
4023 86 A/T 171 None 0.3223 None gnomAD-4.0.0 1.59211E-06
4024 87 A/T 172 None 0.1122 None gnomAD-4.0.0 3.42172E-06
4025 88 E/G 173 rs1452131866 0.6649 None gnomAD-3.1.2 6.57E-06
4025 88 E/G 173 rs1452131866 0.6649 None gnomAD-4.0.0 2.56281E-06
4028 91 V/A 177 None 0.1339 None gnomAD-4.0.0 1.20032E-06
4028 91 V/L 177 rs773276464 0.1339 None gnomAD-2.1.1 1.07E-05
4028 91 V/L 177 rs773276464 0.1339 None gnomAD-3.1.2 6.57E-06
4028 91 V/L 177 rs773276464 0.1339 None gnomAD-4.0.0 7.43723E-06
4028 91 V/M 177 rs773276464 0.1339 None gnomAD-2.1.1 4.03E-06
4028 91 V/M 177 rs773276464 0.1339 None gnomAD-4.0.0 6.84303E-07