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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14942 1 V/M 1 rs786205391 0.4927 None gnomAD-4.0.0 6.90904E-07
14943 2 E/G 2 None 0.5775 None gnomAD-4.0.0 1.38022E-06
14944 3 F/S 3 None 0.1774 None gnomAD-4.0.0 1.37943E-06
14946 5 R/K 5 rs1291314776 0.6766 None gnomAD-2.1.1 4.28E-06
14946 5 R/K 5 rs1291314776 0.6766 None gnomAD-4.0.0 4.13487E-06
14947 6 P/Q 7 rs1030725519 0.4652 None gnomAD-3.1.2 6.6E-06
14948 7 L/P 8 None 0.1442 None gnomAD-4.0.0 1.61472E-06
14949 8 T/A 9 rs878912840 0.6793 None gnomAD-3.1.2 6.59E-06
14949 8 T/A 9 rs878912840 0.6793 None gnomAD-4.0.0 6.58666E-06
14949 8 T/S 9 rs878912840 0.6793 None gnomAD-2.1.1 4.21E-06
14949 8 T/S 9 rs878912840 0.6793 None gnomAD-4.0.0 6.88067E-07
14950 9 D/E 11 rs371376631 0.6283 None gnomAD-2.1.1 1.26E-05
14950 9 D/E 11 rs371376631 0.6283 None gnomAD-4.0.0 2.06356E-06
14950 9 D/G 11 rs1194581912 0.6283 None gnomAD-2.1.1 4.19E-06
14950 9 D/G 11 rs1194581912 0.6283 None gnomAD-4.0.0 1.61074E-06
14950 9 D/H 11 rs571524382 0.6283 None gnomAD-3.1.2 6.6E-06
14950 9 D/H 11 rs571524382 0.6283 None gnomAD-4.0.0 1.2461E-06
14950 9 D/N 11 rs571524382 0.6283 None gnomAD-2.1.1 2.6E-05
14950 9 D/N 11 rs571524382 0.6283 None gnomAD-3.1.2 6.6E-05
14950 9 D/N 11 rs571524382 0.6283 None 1000 genomes 3.99361E-04
14950 9 D/N 11 rs571524382 0.6283 None gnomAD-4.0.0 2.24281E-05
14954 13 R/K 18 rs2058479369 0.7861 None gnomAD-4.0.0 6.87264E-07
14954 13 R/T 18 None 0.7861 None gnomAD-4.0.0 6.87264E-07
14957 16 E/D 25 rs1489415457 0.3426 None gnomAD-2.1.1 4.14E-06
14957 16 E/D 25 rs1489415457 0.3426 None gnomAD-4.0.0 1.60617E-06
14957 16 E/G 25 rs796961766 0.3426 None gnomAD-2.1.1 8.28E-06
14957 16 E/G 25 rs796961766 0.3426 None gnomAD-4.0.0 2.95411E-05
14958 17 M/T 26 None 0.5937 None gnomAD-4.0.0 1.37397E-06
14959 18 A/T 28 None 0.1423 None gnomAD-4.0.0 6.86992E-07
14959 18 A/V 28 None 0.1423 None gnomAD-4.0.0 1.60627E-06
14960 19 R/P 29 rs764153170 0.3331 None gnomAD-3.1.2 6.6E-06
14960 19 R/P 29 rs764153170 0.3331 None gnomAD-4.0.0 6.59544E-06
14960 19 R/Q 29 rs764153170 0.3331 None gnomAD-2.1.1 2.07E-05
14960 19 R/Q 29 rs764153170 0.3331 None gnomAD-3.1.2 1.32E-05
14960 19 R/Q 29 rs764153170 0.3331 None gnomAD-4.0.0 1.18234E-05
14961 20 F/L 30 None 0.0956 None gnomAD-4.0.0 3.21237E-06
14961 20 F/S 30 rs794729433 0.0956 None gnomAD-4.0.0 2.74784E-06
14962 21 E/A 31 None 0.3264 None gnomAD-4.0.0 4.80958E-06
14962 21 E/G 31 None 0.3264 None gnomAD-4.0.0 6.87083E-07
14962 21 E/Q 31 rs879066606 0.3264 None gnomAD-2.1.1 4.15E-06
14962 21 E/Q 31 rs879066606 0.3264 None gnomAD-3.1.2 6.59E-06
14962 21 E/Q 31 rs879066606 0.3264 None gnomAD-4.0.0 3.8762E-06
14963 22 C/G 33 rs763137894 0.0872 None gnomAD-2.1.1 3.19E-05
14963 22 C/G 33 rs763137894 0.0872 None gnomAD-3.1.2 6.59E-06
14963 22 C/G 33 rs763137894 0.0872 None gnomAD-4.0.0 9.04418E-06
14964 23 E/D 34 None 0.3304 None gnomAD-4.0.0 1.20041E-06
14964 23 E/K 34 rs1259780221 0.3304 None gnomAD-3.1.2 6.59E-06
14964 23 E/K 34 rs1259780221 0.3304 None gnomAD-4.0.0 2.58483E-06
14964 23 E/Q 34 rs1259780221 0.3304 None gnomAD-2.1.1 4.15E-06
14964 23 E/Q 34 rs1259780221 0.3304 None gnomAD-4.0.0 1.60764E-06
14965 24 L/V 35 None 0.1228 None gnomAD-4.0.0 1.60816E-06
14966 25 S/C 38 rs1022414957 0.3313 None gnomAD-3.1.2 6.59E-06
14966 25 S/C 38 rs1022414957 0.3313 None gnomAD-4.0.0 6.59152E-06
14966 25 S/P 38 rs760963803 0.3313 None gnomAD-2.1.1 4.16E-06
14966 25 S/P 38 rs760963803 0.3313 None gnomAD-4.0.0 1.60872E-06
14966 25 S/Y 38 None 0.3313 None gnomAD-4.0.0 6.87597E-07
14967 26 R/L 40 None 0.7186 None gnomAD-4.0.0 1.37593E-06
14967 26 R/Q 40 rs752671402 0.7186 None gnomAD-2.1.1 5.18E-05
14967 26 R/Q 40 rs752671402 0.7186 None gnomAD-3.1.2 4.62E-05
14967 26 R/Q 40 rs752671402 0.7186 None gnomAD-4.0.0 3.17741E-05
14971 30 K/N 45 rs757693661 0.9890 None gnomAD-4.0.0 2.06767E-06
14971 30 K/Q 45 None 0.9890 None gnomAD-4.0.0 1.61498E-06
14972 31 V/F 46 None 0.2610 None gnomAD-4.0.0 6.90004E-07
14972 31 V/I 46 None 0.2610 None gnomAD-4.0.0 6.90004E-07
14974 33 W/R 48 None 0.1366 None gnomAD-4.0.0 1.2011E-06
14977 36 D/N 51 rs778989426 0.5395 None gnomAD-3.1.2 6.58E-06
14977 36 D/N 51 rs778989426 0.5395 None gnomAD-4.0.0 6.58345E-06
14977 36 D/V 51 rs1343831802 0.5395 None gnomAD-2.1.1 4.13E-06
14979 38 A/T 55 None 0.3643 None gnomAD-4.0.0 6.86271E-07
14981 40 I/L 58 rs1388200521 0.1324 None gnomAD-2.1.1 3.19E-05
14981 40 I/M 58 None 0.1324 None gnomAD-4.0.0 6.85779E-07
14981 40 I/V 58 None 0.1324 None gnomAD-4.0.0 2.05765E-06
14982 41 K/R 59 None 0.7943 None gnomAD-4.0.0 2.40065E-06
14984 43 G/C 73 rs555721876 0.3471 None gnomAD-2.1.1 4.08E-06
14984 43 G/C 73 rs555721876 0.3471 None gnomAD-3.1.2 6.59E-06
14984 43 G/C 73 rs555721876 0.3471 None gnomAD-4.0.0 1.24192E-06
14984 43 G/D 73 rs1190798574 0.3471 None gnomAD-4.0.0 1.59892E-06
14984 43 G/R 73 rs555721876 0.3471 None gnomAD-2.1.1 3.67E-05
14984 43 G/R 73 rs555721876 0.3471 None gnomAD-3.1.2 6.59E-06
14984 43 G/R 73 rs555721876 0.3471 None 1000 genomes 1.99681E-04
14984 43 G/R 73 rs555721876 0.3471 None gnomAD-4.0.0 9.93463E-06
14987 46 Y/C 121 None 0.2184 None gnomAD-4.0.0 1.20033E-06
14988 47 D/V 122 rs1478836616 0.4063 None gnomAD-3.1.2 1.32E-05
14988 47 D/V 122 rs1478836616 0.4063 None gnomAD-4.0.0 1.98612E-05
14989 48 I/M 123 None 0.2724 None gnomAD-4.0.0 1.20032E-06
14989 48 I/V 123 rs755040094 0.2724 None gnomAD-2.1.1 4.06E-06
14989 48 I/V 123 rs755040094 0.2724 None gnomAD-3.1.2 1.97E-05
14989 48 I/V 123 rs755040094 0.2724 None gnomAD-4.0.0 5.14011E-06
14990 49 I/L 125 rs751709104 0.3608 None gnomAD-2.1.1 2.03E-05
14990 49 I/L 125 rs751709104 0.3608 None gnomAD-4.0.0 1.11756E-05
14990 49 I/M 125 rs766807618 0.3608 None gnomAD-2.1.1 1.44E-05
14990 49 I/M 125 rs766807618 0.3608 None gnomAD-3.1.2 6.58E-06
14990 49 I/M 125 rs766807618 0.3608 None gnomAD-4.0.0 6.42431E-06
14992 51 K/E 130 rs1174482047 0.6954 None gnomAD-3.1.2 1.32E-05
14992 51 K/E 130 rs1174482047 0.6954 None gnomAD-4.0.0 1.31617E-05
14992 51 K/N 130 rs2058355200 0.6954 None gnomAD-4.0.0 1.59602E-06
14992 51 K/Q 130 rs1174482047 0.6954 None gnomAD-2.1.1 4.05E-06
14992 51 K/Q 130 rs1174482047 0.6954 None gnomAD-4.0.0 1.59614E-06
14993 52 G/E 131 rs200931793 0.3071 None gnomAD-2.1.1 4.45E-05
14993 52 G/E 131 rs200931793 0.3071 None gnomAD-3.1.2 5.92E-05
14993 52 G/E 131 rs200931793 0.3071 None gnomAD-4.0.0 9.307E-05
14993 52 G/V 131 rs200931793 0.3071 None gnomAD-4.0.0 2.0551E-06
14994 53 A/V 134 None 0.1577 None gnomAD-4.0.0 2.05514E-06
14996 55 R/C 136 rs765602798 0.1042 None gnomAD-2.1.1 8.08E-06
14996 55 R/C 136 rs765602798 0.1042 None gnomAD-3.1.2 6.58E-06
14996 55 R/C 136 rs765602798 0.1042 None gnomAD-4.0.0 1.24086E-05
14996 55 R/H 136 rs762128685 0.1042 None gnomAD-2.1.1 2.43E-05
14996 55 R/H 136 rs762128685 0.1042 None gnomAD-3.1.2 2.63E-05
14996 55 R/H 136 rs762128685 0.1042 None gnomAD-4.0.0 5.70811E-05
14996 55 R/L 136 rs762128685 0.1042 None gnomAD-2.1.1 4.04E-06
14996 55 R/L 136 rs762128685 0.1042 None gnomAD-4.0.0 4.11012E-06
14997 56 I/V 137 rs1437722307 0.1192 None gnomAD-2.1.1 4.04E-06
14997 56 I/V 137 rs1437722307 0.1192 None gnomAD-4.0.0 1.59532E-06
14999 58 V/I 139 rs1382155901 0.1911 None gnomAD-2.1.1 4.04E-06
14999 58 V/I 139 rs1382155901 0.1911 None gnomAD-4.0.0 3.19049E-06
15000 59 I/T 140 rs886055275 0.0769 None gnomAD-4.0.0 1.59515E-06
15000 59 I/V 140 rs775264673 0.0769 None gnomAD-2.1.1 4.04E-06
15000 59 I/V 140 rs775264673 0.0769 None gnomAD-3.1.2 6.58E-06
15000 59 I/V 140 rs775264673 0.0769 None gnomAD-4.0.0 6.57981E-06
15001 60 N/H 141 rs373109469 0.3507 None gnomAD-2.1.1 4.44E-05
15001 60 N/H 141 rs373109469 0.3507 None gnomAD-3.1.2 6.58E-06
15001 60 N/H 141 rs373109469 0.3507 None gnomAD-4.0.0 3.41181E-05
15001 60 N/K 141 None 0.3507 None gnomAD-4.0.0 1.36982E-06
15002 61 K/Q 143 rs1450027251 0.7433 None gnomAD-4.0.0 1.59496E-06
15002 61 K/R 143 None 0.7433 None gnomAD-4.0.0 2.7396E-06
15002 61 K/T 143 rs1201766795 0.7433 None gnomAD-2.1.1 4.04E-06
15002 61 K/T 143 rs1201766795 0.7433 None gnomAD-4.0.0 6.849E-07
15005 64 L/P 146 rs369992659 1.1094 None gnomAD-2.1.1 3.23E-05
15005 64 L/P 146 rs369992659 1.1094 None gnomAD-3.1.2 1.25016E-04
15005 64 L/P 146 rs369992659 1.1094 None 1000 genomes 1.99681E-04
15005 64 L/P 146 rs369992659 1.1094 None gnomAD-4.0.0 1.73674E-05
15006 65 D/E 148 rs962116921 0.8908 None gnomAD-3.1.2 2.63E-05
15006 65 D/E 148 rs962116921 0.8908 None gnomAD-4.0.0 2.63193E-05
15006 65 D/Y 148 rs557941825 0.8908 None gnomAD-3.1.2 6.58E-06
15006 65 D/Y 148 rs557941825 0.8908 None 1000 genomes 1.99681E-04
15006 65 D/Y 148 rs557941825 0.8908 None gnomAD-4.0.0 6.57488E-06
15007 66 D/H 149 rs1356461359 0.1639 None gnomAD-2.1.1 4.04E-06
15007 66 D/H 149 rs1356461359 0.1639 None gnomAD-4.0.0 3.42441E-06
15007 66 D/Y 149 rs1356461359 0.1639 None gnomAD-2.1.1 4.04E-06
15007 66 D/Y 149 rs1356461359 0.1639 None gnomAD-4.0.0 6.84882E-07
15009 68 A/P 152 rs1196708589 0.0889 None gnomAD-2.1.1 3.19E-05
15009 68 A/P 152 rs1196708589 0.0889 None gnomAD-3.1.2 6.58E-06
15009 68 A/P 152 rs1196708589 0.0889 None gnomAD-4.0.0 6.58025E-06
15009 68 A/T 152 rs1196708589 0.0889 None gnomAD-3.1.2 6.58E-06
15009 68 A/T 152 rs1196708589 0.0889 None gnomAD-4.0.0 6.58025E-06
15010 69 E/K 153 None 0.4484 None gnomAD-4.0.0 1.59483E-06
15013 72 C/R 156 None 0.0647 None gnomAD-4.0.0 6.84851E-07
15013 72 C/S 156 rs2058346797 0.0647 None gnomAD-3.1.2 6.58E-06
15013 72 C/S 156 rs2058346797 0.0647 None gnomAD-4.0.0 1.86084E-06
15015 74 V/E 158 rs786205390 0.1430 None gnomAD-4.0.0 1.98609E-05
15015 74 V/I 158 rs1280583303 0.1430 None gnomAD-2.1.1 4.04E-06
15015 74 V/I 158 rs1280583303 0.1430 None gnomAD-4.0.0 1.59476E-06
15015 74 V/L 158 None 0.1430 None gnomAD-4.0.0 1.59476E-06
15016 75 R/S 159 None 0.8807 None gnomAD-4.0.0 1.59483E-06
15016 75 R/T 159 None 0.8807 None gnomAD-4.0.0 7.20193E-06
15017 76 T/I 161 None 0.9469 None gnomAD-4.0.0 6.84868E-07
15017 76 T/R 161 rs777613831 0.9469 None gnomAD-2.1.1 4.04E-06
15017 76 T/R 161 rs777613831 0.9469 None gnomAD-3.1.2 1.97E-05
15017 76 T/R 161 rs777613831 0.9469 None gnomAD-4.0.0 3.10159E-06
15018 77 A/E 162 rs72677221 0.1899 None gnomAD-2.1.1 1.21904E-04
15018 77 A/E 162 rs72677221 0.1899 None gnomAD-3.1.2 1.98E-05
15018 77 A/E 162 rs72677221 0.1899 None gnomAD-4.0.0 3.22591E-05
15018 77 A/G 162 None 0.1899 None gnomAD-4.0.0 6.84892E-07
15018 77 A/V 162 rs72677221 0.1899 None gnomAD-2.1.1 7.74449E-04
15018 77 A/V 162 rs72677221 0.1899 None gnomAD-3.1.2 4.08255E-04
15018 77 A/V 162 rs72677221 0.1899 None 1000 genomes 1.79712E-03
15018 77 A/V 162 rs72677221 0.1899 None gnomAD-4.0.0 2.25177E-04
15019 78 R/I 163 rs1553719573 0.4818 None gnomAD-4.0.0 1.36979E-06
15020 79 T/N 164 rs755201448 0.1086 None gnomAD-2.1.1 5.25E-05
15020 79 T/N 164 rs755201448 0.1086 None gnomAD-3.1.2 2.63E-05
15020 79 T/N 164 rs755201448 0.1086 None gnomAD-4.0.0 2.54344E-05
15022 81 G/S 166 rs1296403453 0.1144 None gnomAD-2.1.1 4.04E-06
15022 81 G/S 166 rs1296403453 0.1144 None gnomAD-4.0.0 1.59509E-06
15023 82 M/I 178 rs373308815 0.3190 None gnomAD-2.1.1 8.08E-06
15023 82 M/I 178 rs373308815 0.3190 None gnomAD-3.1.2 1.32E-05
15023 82 M/I 178 rs373308815 0.3190 None 1000 genomes 1.99681E-04
15023 82 M/I 178 rs373308815 0.3190 None gnomAD-4.0.0 5.13495E-06
15023 82 M/T 178 rs2058342072 0.3190 None gnomAD-4.0.0 1.59515E-06
15023 82 M/V 178 rs370996945 0.3190 None gnomAD-4.0.0 1.59509E-06