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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18065 1 R/C 1 rs369438623 0.3307 None gnomAD-2.1.1 1.22E-05
18065 1 R/C 1 rs369438623 0.3307 None gnomAD-3.1.2 1.32E-05
18065 1 R/C 1 rs369438623 0.3307 None 1000 genomes 1.99681E-04
18065 1 R/C 1 rs369438623 0.3307 None gnomAD-4.0.0 7.45221E-06
18065 1 R/H 1 rs375895183 0.3307 None gnomAD-2.1.1 6.5E-05
18065 1 R/H 1 rs375895183 0.3307 None gnomAD-3.1.2 4.61E-05
18065 1 R/H 1 rs375895183 0.3307 None gnomAD-4.0.0 9.19224E-05
18065 1 R/P 1 rs375895183 0.3307 None gnomAD-3.1.2 6.59E-06
18065 1 R/P 1 rs375895183 0.3307 None gnomAD-4.0.0 6.59092E-06
18066 2 P/A 2 None 0.0970 None gnomAD-4.0.0 1.59712E-06
18067 3 S/C 3 rs745390353 0.1941 None gnomAD-2.1.1 4.05E-06
18067 3 S/T 3 None 0.1941 None gnomAD-4.0.0 3.19328E-06
18068 4 P/A 4 None 0.2818 None gnomAD-4.0.0 4.79658E-06
18068 4 P/S 4 None 0.2818 None gnomAD-4.0.0 6.85225E-07
18069 5 P/L 5 rs2054408175 0.1215 None gnomAD-4.0.0 6.85105E-07
18072 8 L/H 9 None 0.1648 None gnomAD-4.0.0 1.59502E-06
18073 9 A/S 11 None 0.2998 None gnomAD-4.0.0 6.84976E-07
18073 9 A/V 11 None 0.2998 None gnomAD-4.0.0 1.20032E-06
18074 10 V/G 12 None 0.2638 None gnomAD-4.0.0 1.59487E-06
18074 10 V/L 12 None 0.2638 None gnomAD-4.0.0 1.59493E-06
18075 11 T/S 13 rs2054404821 0.3899 None gnomAD-4.0.0 2.05463E-06
18076 12 D/N 14 rs1250676624 0.4314 None gnomAD-3.1.2 6.59E-06
18076 12 D/N 14 rs1250676624 0.4314 None gnomAD-4.0.0 2.03057E-06
18077 13 I/T 15 rs1261779331 0.3156 None gnomAD-2.1.1 4.03E-06
18077 13 I/T 15 rs1261779331 0.3156 None gnomAD-4.0.0 1.59431E-06
18077 13 I/V 15 None 0.3156 None gnomAD-4.0.0 2.73908E-06
18078 14 K/E 16 None 0.3561 None gnomAD-4.0.0 1.20032E-06
18079 15 A/G 17 rs375807843 0.2073 None gnomAD-2.1.1 4.03E-06
18079 15 A/G 17 rs375807843 0.2073 None gnomAD-3.1.2 6.58E-06
18079 15 A/G 17 rs375807843 0.2073 None gnomAD-4.0.0 1.86073E-06
18079 15 A/T 17 rs777598789 0.2073 None gnomAD-2.1.1 4.03E-06
18079 15 A/T 17 rs777598789 0.2073 None gnomAD-4.0.0 1.59428E-06
18080 16 E/K 18 rs756321267 0.4842 None gnomAD-2.1.1 4.03E-06
18080 16 E/K 18 rs756321267 0.4842 None gnomAD-4.0.0 2.73903E-06
18081 17 S/F 19 None 0.1342 None gnomAD-4.0.0 2.40065E-06
18081 17 S/T 19 None 0.1342 None gnomAD-4.0.0 1.20032E-06
18085 21 T/A 23 rs1274377339 0.2824 None gnomAD-2.1.1 3.19E-05
18085 21 T/A 23 rs1274377339 0.2824 None gnomAD-3.1.2 6.58E-06
18085 21 T/A 23 rs1274377339 0.2824 None gnomAD-4.0.0 2.03046E-06
18087 23 D/E 25 rs752954226 0.4087 None gnomAD-2.1.1 8.06E-06
18087 23 D/E 25 rs752954226 0.4087 None gnomAD-3.1.2 1.32E-05
18087 23 D/E 25 rs752954226 0.4087 None gnomAD-4.0.0 6.41725E-06
18087 23 D/N 25 None 0.4087 None gnomAD-4.0.0 1.36954E-06
18087 23 D/V 25 None 0.4087 None gnomAD-4.0.0 1.20032E-06
18088 24 A/D 26 None 0.3273 None gnomAD-4.0.0 1.59431E-06
18088 24 A/T 26 rs781223649 0.3273 None gnomAD-2.1.1 4.03E-06
18088 24 A/T 26 rs781223649 0.3273 None gnomAD-4.0.0 1.59407E-06
18089 25 P/S 27 None 0.1639 None gnomAD-4.0.0 1.59408E-06
18091 27 D/E 29 rs2054393920 0.3310 None gnomAD-4.0.0 1.11577E-05
18091 27 D/H 29 rs751597873 0.3310 None gnomAD-2.1.1 4.03E-06
18091 27 D/N 29 None 0.3310 None gnomAD-4.0.0 1.59423E-06
18092 28 N/D 30 None 0.3078 None gnomAD-4.0.0 2.40064E-06
18093 29 G/D 31 rs766855804 0.0779 None gnomAD-3.1.2 1.32E-05
18093 29 G/D 31 rs766855804 0.0779 None gnomAD-4.0.0 3.85033E-06
18093 29 G/V 31 rs766855804 0.0779 None gnomAD-2.1.1 1.21E-05
18093 29 G/V 31 rs766855804 0.0779 None gnomAD-4.0.0 7.96978E-06
18094 30 G/D 32 None 0.2774 None gnomAD-4.0.0 1.36943E-06
18095 31 S/C 33 rs371747177 0.1647 None gnomAD-2.1.1 4.03E-06
18095 31 S/G 33 None 0.1647 None gnomAD-4.0.0 6.84708E-07
18096 32 E/K 34 None 0.8068 None gnomAD-4.0.0 1.20032E-06
18096 32 E/V 34 None 0.8068 None gnomAD-4.0.0 1.20032E-06
18097 33 I/T 35 rs1553681465 0.2061 None gnomAD-4.0.0 2.05417E-06
18097 33 I/V 35 None 0.2061 None gnomAD-4.0.0 3.60097E-06
18098 34 T/A 36 None 0.3553 None gnomAD-4.0.0 1.36946E-06
18099 35 H/Q 37 rs750814326 0.2259 None gnomAD-2.1.1 4.03E-06
18099 35 H/Q 37 rs750814326 0.2259 None gnomAD-4.0.0 6.84721E-07
18099 35 H/Y 37 None 0.2259 None gnomAD-4.0.0 1.59407E-06
18100 36 Y/S 38 None 0.1191 None gnomAD-4.0.0 1.20032E-06
18102 38 I/N 40 rs1318872584 0.0751 None gnomAD-3.1.2 6.58E-06
18102 38 I/N 40 rs1318872584 0.0751 None gnomAD-4.0.0 6.58137E-06
18102 38 I/T 40 rs1318872584 0.0751 None gnomAD-2.1.1 1.21E-05
18102 38 I/T 40 rs1318872584 0.0751 None gnomAD-4.0.0 7.97151E-06
18103 39 D/G 41 None 0.1076 None gnomAD-4.0.0 1.20032E-06
18103 39 D/N 41 rs1193175329 0.1076 None gnomAD-4.0.0 1.36959E-06
18105 41 R/C 43 rs765739434 0.2192 None gnomAD-2.1.1 1.07E-05
18105 41 R/C 43 rs765739434 0.2192 None gnomAD-3.1.2 6.59E-06
18105 41 R/C 43 rs765739434 0.2192 None gnomAD-4.0.0 2.0472E-05
18105 41 R/G 43 None 0.2192 None gnomAD-4.0.0 6.84844E-07
18105 41 R/H 43 rs760383112 0.2192 None gnomAD-2.1.1 3.94E-05
18105 41 R/H 43 rs760383112 0.2192 None gnomAD-3.1.2 1.98E-05
18105 41 R/H 43 rs760383112 0.2192 None gnomAD-4.0.0 1.67479E-05
18107 43 A/G 50 rs794729457 0.1368 None gnomAD-4.0.0 3.18959E-06
18108 44 S/R 54 rs1460827160 0.4039 None gnomAD-3.1.2 6.58E-06
18108 44 S/R 54 rs1460827160 0.4039 None gnomAD-4.0.0 1.86085E-06
18109 45 R/G 60 None 0.6412 None gnomAD-4.0.0 6.8482E-07
18109 45 R/K 60 rs1422300331 0.6412 None gnomAD-2.1.1 4.03E-06
18109 45 R/K 60 rs1422300331 0.6412 None gnomAD-4.0.0 1.59496E-06
18111 47 K/T 62 rs2054379596 1.0329 None gnomAD-3.1.2 6.58E-06
18111 47 K/T 62 rs2054379596 1.0329 None gnomAD-4.0.0 6.57877E-06
18112 48 A/G 63 None 0.2534 None gnomAD-4.0.0 1.59546E-06
18112 48 A/T 63 None 0.2534 None gnomAD-4.0.0 1.36986E-06
18113 49 E/K 64 None 0.9748 None gnomAD-4.0.0 2.40064E-06
18114 50 W/R 65 rs552112862 0.2724 None gnomAD-2.1.1 8.06E-06
18114 50 W/R 65 rs552112862 0.2724 None gnomAD-3.1.2 4.61E-05
18114 50 W/R 65 rs552112862 0.2724 None 1000 genomes 3.99361E-04
18114 50 W/R 65 rs552112862 0.2724 None gnomAD-4.0.0 1.20032E-06
18115 51 E/D 66 None 0.4646 None gnomAD-4.0.0 2.40064E-06
18115 51 E/K 66 rs2054377809 0.4646 None gnomAD-4.0.0 1.59571E-06
18116 52 E/D 67 rs773746281 0.3790 None gnomAD-2.1.1 1.61E-05
18116 52 E/D 67 rs773746281 0.3790 None gnomAD-3.1.2 3.29E-05
18116 52 E/D 67 rs773746281 0.3790 None gnomAD-4.0.0 7.4456E-06
18118 54 T/A 69 None 0.1276 None gnomAD-4.0.0 1.59636E-06
18118 54 T/I 69 rs373881551 0.1276 None gnomAD-4.0.0 1.20032E-06
18119 55 N/K 70 None 0.4883 None gnomAD-4.0.0 3.601E-06
18120 56 T/A 75 None 0.6189 None gnomAD-4.0.0 1.37054E-06
18120 56 T/S 75 rs770883968 0.6189 None gnomAD-2.1.1 4.04E-06
18120 56 T/S 75 rs770883968 0.6189 None gnomAD-4.0.0 6.8527E-07
18122 58 V/I 83 rs563319285 0.6170 None gnomAD-2.1.1 3.64E-05
18122 58 V/I 83 rs563319285 0.6170 None gnomAD-3.1.2 6.58E-06
18122 58 V/I 83 rs563319285 0.6170 None 1000 genomes 1.99681E-04
18122 58 V/I 83 rs563319285 0.6170 None gnomAD-4.0.0 1.86266E-05
18123 59 E/Q 88 None 0.8133 None gnomAD-4.0.0 1.20033E-06
18127 63 G/A 92 rs371971395 0.1257 None gnomAD-2.1.1 7.29E-06
18127 63 G/A 92 rs371971395 0.1257 None gnomAD-3.1.2 1.32E-05
18127 63 G/A 92 rs371971395 0.1257 None gnomAD-4.0.0 1.87025E-05
18128 64 I/S 93 rs765843072 0.1112 None gnomAD-2.1.1 1.26E-05
18128 64 I/S 93 rs765843072 0.1112 None gnomAD-4.0.0 1.00711E-05
18129 65 W/C 94 None 0.5882 None gnomAD-4.0.0 2.18193E-06
18129 65 W/G 94 rs773082246 0.5882 None gnomAD-2.1.1 6.27E-06
18129 65 W/G 94 rs773082246 0.5882 None gnomAD-3.1.2 6.58E-06
18129 65 W/G 94 rs773082246 0.5882 None gnomAD-4.0.0 3.27269E-06
18131 67 L/H 97 None 0.0952 None gnomAD-4.0.0 2.11844E-06
18132 68 I/N 98 rs769730131 0.6619 None gnomAD-2.1.1 6.03E-06
18132 68 I/N 98 rs769730131 0.6619 None gnomAD-4.0.0 2.09592E-06
18132 68 I/T 98 None 0.6619 None gnomAD-4.0.0 4.19184E-06
18133 69 P/L 99 None 0.3500 None gnomAD-4.0.0 2.08359E-06
18133 69 P/S 99 rs532354607 0.3500 None gnomAD-4.0.0 2.10634E-06
18134 70 N/K 100 rs1020792831 0.6649 None gnomAD-4.0.0 2.25945E-06
18134 70 N/S 100 rs971483896 0.6649 None gnomAD-3.1.2 1.32E-05
18134 70 N/S 100 rs971483896 0.6649 None gnomAD-4.0.0 1.96056E-05
18135 71 G/D 102 rs776471324 0.1436 None gnomAD-2.1.1 5.71E-06
18135 71 G/D 102 rs776471324 0.1436 None gnomAD-4.0.0 2.257E-06
18136 72 Q/H 103 None 0.4397 None gnomAD-4.0.0 7.32324E-07
18138 74 E/D 105 None 0.1346 None gnomAD-4.0.0 1.82077E-06
18138 74 E/Q 105 None 0.1346 None gnomAD-4.0.0 1.86926E-06
18140 76 R/G 107 rs747236787 0.1213 None gnomAD-4.0.0 7.13933E-07
18140 76 R/Q 107 rs547224785 0.1213 None gnomAD-2.1.1 3.19E-05
18140 76 R/Q 107 rs547224785 0.1213 None gnomAD-3.1.2 1.32E-05
18140 76 R/Q 107 rs547224785 0.1213 None gnomAD-4.0.0 9.02008E-06
18141 77 V/F 108 None 0.0799 None gnomAD-4.0.0 1.42257E-06
18141 77 V/I 108 rs527461961 0.0799 None gnomAD-4.0.0 4.979E-06
18142 78 R/S 109 rs1455326648 0.2314 None gnomAD-3.1.2 6.58E-06
18142 78 R/S 109 rs1455326648 0.2314 None gnomAD-4.0.0 1.72692E-06
18142 78 R/W 109 None 0.2314 None gnomAD-4.0.0 1.72857E-06
18144 80 V/A 111 None 0.1245 None gnomAD-4.0.0 1.41282E-06
18144 80 V/M 111 rs758363721 0.1245 None gnomAD-2.1.1 9.25E-06
18144 80 V/M 111 rs758363721 0.1245 None gnomAD-4.0.0 3.4305E-06
18147 83 Y/N 114 None 0.2923 None gnomAD-4.0.0 6.99584E-07
18149 85 I/N 117 None 0.4506 None gnomAD-4.0.0 1.65667E-06
18149 85 I/V 117 None 0.4506 None gnomAD-4.0.0 1.20032E-06
18151 87 D/G 119 None 0.5501 None gnomAD-4.0.0 6.93126E-07
18152 88 E/D 120 None 0.3380 None gnomAD-4.0.0 6.90601E-07
18152 88 E/K 120 None 0.3380 None gnomAD-4.0.0 1.38499E-06
18154 90 K/E 122 None 0.3503 None gnomAD-4.0.0 1.20032E-06
18156 92 D/H 125 None 1.0311 None gnomAD-4.0.0 1.6119E-06
18157 93 K/N 126 rs779495049 0.5885 None gnomAD-2.1.1 2.04E-05
18157 93 K/N 126 rs779495049 0.5885 None gnomAD-3.1.2 6.58E-06
18157 93 K/N 126 rs779495049 0.5885 None gnomAD-4.0.0 9.3162E-06
18157 93 K/R 126 rs1177698490 0.5885 None gnomAD-3.1.2 6.58E-06
18157 93 K/R 126 rs1177698490 0.5885 None gnomAD-4.0.0 6.57947E-06
18158 94 V/I 127 None 0.2023 None gnomAD-4.0.0 1.37133E-06
18158 94 V/L 127 None 0.2023 None gnomAD-4.0.0 6.85663E-07
18160 96 I/L 130 None 0.0618 None gnomAD-4.0.0 1.59767E-06
18162 98 D/V 132 None 0.7905 None gnomAD-4.0.0 1.59632E-06