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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30133 2 L/V 2 None 0.7925 None gnomAD-4.0.0 1.59263E-06
30135 4 D/A 4 None 0.7502 None gnomAD-4.0.0 1.36906E-06
30135 4 D/Y 4 rs1345842095 0.7502 None gnomAD-3.1.2 6.57E-06
30135 4 D/Y 4 rs1345842095 0.7502 None gnomAD-4.0.0 2.47984E-06
30137 6 P/L 7 None 0.6605 None gnomAD-4.0.0 1.20032E-06
30137 6 P/S 7 rs727505150 0.6605 None gnomAD-4.0.0 1.36941E-06
30138 7 G/R 8 rs1225356759 0.7926 None gnomAD-2.1.1 3.18E-05
30138 7 G/R 8 rs1225356759 0.7926 None gnomAD-3.1.2 1.97E-05
30138 7 G/R 8 rs1225356759 0.7926 None gnomAD-4.0.0 6.41534E-06
30141 10 V/I 13 None 0.3168 None gnomAD-4.0.0 1.37028E-06
30142 11 T/A 14 None 0.8006 None gnomAD-4.0.0 2.05658E-06
30142 11 T/I 14 rs754759596 0.8006 None gnomAD-3.1.2 6.57E-06
30142 11 T/I 14 rs754759596 0.8006 None gnomAD-4.0.0 6.57125E-06
30142 11 T/N 14 None 0.8006 None gnomAD-4.0.0 6.85568E-07
30142 11 T/S 14 rs754759596 0.8006 None gnomAD-2.1.1 4.03E-06
30142 11 T/S 14 rs754759596 0.8006 None gnomAD-4.0.0 6.85568E-07
30143 12 V/L 16 rs1287481084 0.3861 None gnomAD-2.1.1 4.04E-06
30143 12 V/L 16 rs1287481084 0.3861 None gnomAD-4.0.0 6.85653E-07
30145 14 I/N 23 rs751359750 0.4876 None gnomAD-2.1.1 4.04E-06
30145 14 I/N 23 rs751359750 0.4876 None gnomAD-4.0.0 1.37205E-06
30145 14 I/T 23 rs751359750 0.4876 None gnomAD-2.1.1 1.61E-05
30145 14 I/T 23 rs751359750 0.4876 None gnomAD-3.1.2 1.31E-05
30145 14 I/T 23 rs751359750 0.4876 None gnomAD-4.0.0 1.3666E-05
30146 15 G/E 24 rs758618786 0.2818 None gnomAD-2.1.1 4.04E-06
30146 15 G/R 24 rs766581267 0.2818 None gnomAD-2.1.1 4.04E-06
30146 15 G/R 24 rs766581267 0.2818 None gnomAD-4.0.0 6.17608E-06
30147 16 H/Q 25 rs72648242 0.5958 None gnomAD-2.1.1 1.62E-05
30147 16 H/Q 25 rs72648242 0.5958 None gnomAD-3.1.2 1.31E-05
30147 16 H/Q 25 rs72648242 0.5958 None gnomAD-4.0.0 1.28951E-05
30147 16 H/Y 25 None 0.5958 None gnomAD-4.0.0 1.60242E-06
30148 17 N/S 26 rs1699818097 0.5108 None gnomAD-4.0.0 3.20853E-06
30149 18 V/M 28 rs1699816128 0.2205 None gnomAD-4.0.0 1.60543E-06
30150 19 H/P 29 None 0.6221 None gnomAD-4.0.0 1.60908E-06
30150 19 H/Q 29 None 0.6221 None gnomAD-4.0.0 6.87602E-07
30150 19 H/Y 29 rs1166895783 0.6221 None gnomAD-2.1.1 4.05E-06
30150 19 H/Y 29 rs1166895783 0.6221 None gnomAD-4.0.0 1.60877E-06
30151 20 L/F 30 rs750520740 0.2776 None gnomAD-2.1.1 4.05E-06
30151 20 L/F 30 rs750520740 0.2776 None gnomAD-4.0.0 3.22724E-06
30151 20 L/P 30 rs568322187 0.2776 None gnomAD-2.1.1 1.44E-05
30151 20 L/P 30 rs568322187 0.2776 None gnomAD-3.1.2 4.6E-05
30151 20 L/P 30 rs568322187 0.2776 None gnomAD-4.0.0 6.16875E-05
30154 23 P/L 34 None 0.2775 None gnomAD-4.0.0 1.20032E-06
30154 23 P/R 34 None 0.2775 None gnomAD-4.0.0 1.20032E-06
30154 23 P/S 34 None 0.2775 None gnomAD-4.0.0 1.61884E-06
30155 24 Y/C 35 rs918516226 0.1372 None gnomAD-2.1.1 4.09E-06
30155 24 Y/C 35 rs918516226 0.1372 None gnomAD-3.1.2 6.57E-06
30155 24 Y/C 35 rs918516226 0.1372 None gnomAD-4.0.0 1.87219E-06
30155 24 Y/H 35 None 0.1372 None gnomAD-4.0.0 2.40066E-06
30156 25 K/E 38 rs762340648 0.7574 None gnomAD-2.1.1 4.11E-06
30156 25 K/E 38 rs762340648 0.7574 None gnomAD-3.1.2 6.57E-06
30156 25 K/E 38 rs762340648 0.7574 None gnomAD-4.0.0 2.60206E-06
30159 28 P/H 42 rs1699807023 0.6002 None gnomAD-3.1.2 6.57E-06
30159 28 P/H 42 rs1699807023 0.6002 None gnomAD-4.0.0 6.57436E-06
30161 30 P/S 44 None 0.1305 None gnomAD-4.0.0 1.63395E-06
30163 32 I/V 46 rs1445875669 0.1285 None gnomAD-4.0.0 1.20032E-06
30165 34 W/C 48 rs761010373 0.1220 None gnomAD-2.1.1 4.24E-06
30165 34 W/C 48 rs761010373 0.1220 None gnomAD-3.1.2 6.57E-06
30165 34 W/C 48 rs761010373 0.1220 None gnomAD-4.0.0 6.57151E-06
30165 34 W/S 48 None 0.1220 None gnomAD-4.0.0 2.08219E-06
30166 35 L/P 49 None 0.1981 None gnomAD-4.0.0 1.64581E-06
30168 37 D/G 51 rs1244536669 0.5595 None gnomAD-3.1.2 1.31E-05
30168 37 D/G 51 rs1244536669 0.5595 None gnomAD-4.0.0 1.31387E-05
30169 38 G/D 52 rs775893072 0.3901 None gnomAD-2.1.1 3.41E-05
30169 38 G/D 52 rs775893072 0.3901 None gnomAD-4.0.0 9.03258E-06
30169 38 G/V 52 None 0.3901 None gnomAD-4.0.0 6.94814E-07
30171 40 P/L 56 rs2154151253 0.4874 None gnomAD-4.0.0 3.30137E-06
30171 40 P/T 56 None 0.4874 None gnomAD-4.0.0 6.95148E-07
30172 41 L/M 58 rs1392178250 0.2498 None gnomAD-2.1.1 3.18E-05
30172 41 L/P 58 None 0.2498 None gnomAD-4.0.0 1.39005E-06
30172 41 L/R 58 None 0.2498 None gnomAD-4.0.0 6.95025E-07
30175 44 S/G 73 rs201060254 0.3438 None gnomAD-2.1.1 2.15E-05
30175 44 S/G 73 rs201060254 0.3438 None gnomAD-4.0.0 1.15489E-05
30175 44 S/R 73 rs1220880668 0.3438 None gnomAD-2.1.1 7.58E-06
30175 44 S/R 73 rs1220880668 0.3438 None gnomAD-3.1.2 6.57E-06
30175 44 S/R 73 rs1220880668 0.3438 None gnomAD-4.0.0 2.6377E-06
30175 44 S/T 73 None 0.3438 None gnomAD-4.0.0 1.64977E-06
30177 46 F/C 115 rs772875882 0.5074 None gnomAD-2.1.1 4.28E-06
30177 46 F/C 115 rs772875882 0.5074 None gnomAD-4.0.0 8.2216E-06
30177 46 F/L 115 rs748918212 0.5074 None gnomAD-2.1.1 1.28E-05
30177 46 F/L 115 rs748918212 0.5074 None gnomAD-4.0.0 5.55105E-06
30178 47 V/L 121 None 0.2004 None gnomAD-4.0.0 1.64371E-06
30179 48 R/C 122 rs769360937 0.6835 None gnomAD-2.1.1 3.77E-05
30179 48 R/C 122 rs769360937 0.6835 None gnomAD-3.1.2 3.29E-05
30179 48 R/C 122 rs769360937 0.6835 None gnomAD-4.0.0 3.26224E-05
30179 48 R/G 122 rs769360937 0.6835 None gnomAD-2.1.1 4.28E-06
30179 48 R/G 122 rs769360937 0.6835 None gnomAD-3.1.2 1.31E-05
30179 48 R/G 122 rs769360937 0.6835 None gnomAD-4.0.0 2.3212E-05
30179 48 R/H 122 rs149567378 0.6835 None gnomAD-2.1.1 3.2551E-03
30179 48 R/H 122 rs149567378 0.6835 None gnomAD-3.1.2 1.8407E-03
30179 48 R/H 122 rs149567378 0.6835 None 1000 genomes 6.1901E-03
30179 48 R/H 122 rs149567378 0.6835 None gnomAD-4.0.0 2.16914E-03
30179 48 R/P 122 rs149567378 0.6835 None gnomAD-2.1.1 4.32E-06
30179 48 R/P 122 rs149567378 0.6835 None gnomAD-4.0.0 1.38834E-06
30180 49 F/L 123 None 0.2208 None gnomAD-4.0.0 1.20032E-06
30182 51 K/I 127 None 0.4929 None gnomAD-4.0.0 1.20032E-06
30184 53 E/V 131 rs754965003 0.5017 None gnomAD-2.1.1 8.56E-06
30184 53 E/V 131 rs754965003 0.5017 None gnomAD-4.0.0 4.89221E-06
30188 57 T/I 137 rs1456715081 0.2260 None gnomAD-3.1.2 6.57E-06
30188 57 T/I 137 rs1456715081 0.2260 None gnomAD-4.0.0 2.49705E-06
30189 58 L/F 138 None 0.1051 None gnomAD-4.0.0 6.88953E-07
30191 60 I/T 140 None 0.1423 None gnomAD-4.0.0 2.06318E-06
30191 60 I/V 140 rs746824077 0.1423 None gnomAD-2.1.1 1.11E-05
30191 60 I/V 140 rs746824077 0.1423 None gnomAD-3.1.2 6.57E-06
30191 60 I/V 140 rs746824077 0.1423 None gnomAD-4.0.0 3.11628E-06
30193 62 N/H 143 rs1168404090 0.3510 None gnomAD-2.1.1 4.13E-06
30193 62 N/H 143 rs1168404090 0.3510 None gnomAD-3.1.2 6.57E-06
30193 62 N/H 143 rs1168404090 0.3510 None gnomAD-4.0.0 2.48845E-06
30193 62 N/K 143 rs779880537 0.3510 None gnomAD-2.1.1 4.1E-06
30193 62 N/K 143 rs779880537 0.3510 None gnomAD-3.1.2 6.57E-06
30193 62 N/K 143 rs779880537 0.3510 None gnomAD-4.0.0 2.57445E-06
30194 63 A/S 144 rs879039246 0.1313 None gnomAD-2.1.1 4.09E-06
30194 63 A/S 144 rs879039246 0.1313 None gnomAD-4.0.0 1.6008E-06
30194 63 A/V 144 rs1198317987 0.1313 None gnomAD-2.1.1 4.09E-06
30194 63 A/V 144 rs1198317987 0.1313 None gnomAD-4.0.0 1.60004E-06
30195 64 K/R 145 rs1699777024 0.6538 None gnomAD-4.0.0 2.05684E-06
30196 65 K/T 146 None 0.8841 None gnomAD-4.0.0 1.59921E-06
30197 66 E/G 148 rs531923761 0.7279 None gnomAD-2.1.1 3.24E-05
30197 66 E/G 148 rs531923761 0.7279 None gnomAD-3.1.2 6.57E-06
30197 66 E/G 148 rs531923761 0.7279 None 1000 genomes 1.99681E-04
30197 66 E/G 148 rs531923761 0.7279 None gnomAD-4.0.0 1.02693E-05
30198 67 H/D 149 rs750619537 0.2696 None gnomAD-2.1.1 8.11E-06
30198 67 H/D 149 rs750619537 0.2696 None gnomAD-3.1.2 6.58E-06
30198 67 H/D 149 rs750619537 0.2696 None gnomAD-4.0.0 2.4814E-06
30198 67 H/Q 149 rs765307374 0.2696 None gnomAD-2.1.1 4.05E-06
30198 67 H/Q 149 rs765307374 0.2696 None gnomAD-3.1.2 1.97E-05
30198 67 H/Q 149 rs765307374 0.2696 None gnomAD-4.0.0 1.24051E-05
30198 67 H/R 149 rs1479999162 0.2696 None gnomAD-2.1.1 4.05E-06
30198 67 H/R 149 rs1479999162 0.2696 None gnomAD-4.0.0 4.10941E-06
30199 68 G/E 151 rs757271306 0.3290 None gnomAD-2.1.1 4.05E-06
30199 68 G/E 151 rs757271306 0.3290 None gnomAD-3.1.2 6.57E-06
30199 68 G/E 151 rs757271306 0.3290 None gnomAD-4.0.0 2.02988E-06
30199 68 G/R 151 None 0.3290 None gnomAD-4.0.0 3.18963E-06
30200 69 G/E 152 None 0.2247 None gnomAD-4.0.0 1.20033E-06
30201 70 K/N 153 rs931505367 0.7025 None gnomAD-3.1.2 1.31E-05
30201 70 K/N 153 rs931505367 0.7025 None gnomAD-4.0.0 1.31435E-05
30202 71 Y/H 154 rs1319107729 0.1327 None gnomAD-2.1.1 8.08E-06
30202 71 Y/H 154 rs1319107729 0.1327 None gnomAD-4.0.0 4.79191E-06
30203 72 T/S 155 None 0.2201 None gnomAD-2.1.1 3.19E-05
30203 72 T/S 155 None 0.2201 None gnomAD-4.0.0 4.791E-06
30204 73 V/A 156 rs1699759872 0.0825 None gnomAD-4.0.0 6.84399E-07
30204 73 V/I 156 rs898701169 0.0825 None gnomAD-4.0.0 6.84415E-07
30205 74 I/N 157 rs1283032526 0.2122 None gnomAD-2.1.1 4.03E-06
30205 74 I/N 157 rs1283032526 0.2122 None gnomAD-4.0.0 3.18458E-06
30206 75 L/F 158 rs373893122 0.0777 None gnomAD-3.1.2 1.31E-05
30206 75 L/F 158 rs373893122 0.0777 None gnomAD-4.0.0 3.65721E-05
30206 75 L/I 158 None 0.0777 None gnomAD-3.1.2 6.57E-06
30206 75 L/I 158 None 0.0777 None gnomAD-4.0.0 6.57376E-06
30206 75 L/V 158 rs373893122 0.0777 None gnomAD-2.1.1 4.04E-06
30206 75 L/V 158 rs373893122 0.0777 None gnomAD-4.0.0 6.84401E-07
30209 78 A/P 162 None 0.6708 None gnomAD-4.0.0 1.59199E-06
30209 78 A/T 162 None 0.6708 None gnomAD-4.0.0 1.59199E-06
30209 78 A/V 162 None 0.6708 None gnomAD-4.0.0 1.20032E-06
30210 79 V/A 163 rs767880082 0.6636 None gnomAD-2.1.1 4.03E-06
30210 79 V/A 163 rs767880082 0.6636 None gnomAD-3.1.2 6.58E-06
30210 79 V/A 163 rs767880082 0.6636 None gnomAD-4.0.0 4.33874E-06
30210 79 V/L 163 rs753025017 0.6636 None gnomAD-4.0.0 2.05296E-06
30210 79 V/M 163 rs753025017 0.6636 None gnomAD-2.1.1 1.61E-05
30210 79 V/M 163 rs753025017 0.6636 None gnomAD-3.1.2 6.57E-06
30210 79 V/M 163 rs753025017 0.6636 None gnomAD-4.0.0 2.0453E-05
30211 80 C/R 164 rs1329290797 0.2620 None gnomAD-2.1.1 4.03E-06
30211 80 C/R 164 rs1329290797 0.2620 None gnomAD-4.0.0 1.59183E-06
30211 80 C/Y 164 None 0.2620 None gnomAD-4.0.0 2.73727E-06
30212 81 R/T 165 rs762512777 0.5051 None gnomAD-2.1.1 4.03E-06
30212 81 R/T 165 rs762512777 0.5051 None gnomAD-4.0.0 7.20193E-06
30213 82 I/T 166 rs114026724 0.2056 None gnomAD-2.1.1 1.93234E-03
30213 82 I/T 166 rs114026724 0.2056 None gnomAD-3.1.2 5.5565E-03
30213 82 I/T 166 rs114026724 0.2056 None 1000 genomes 6.58946E-03
30213 82 I/T 166 rs114026724 0.2056 None gnomAD-4.0.0 1.03813E-03
30214 83 A/S 168 rs769553778 0.2799 None gnomAD-4.0.0 6.84368E-07
30214 83 A/T 168 rs769553778 0.2799 None gnomAD-2.1.1 4.03E-06
30214 83 A/T 168 rs769553778 0.2799 None gnomAD-4.0.0 1.36874E-06
30214 83 A/V 168 rs1476886786 0.2799 None gnomAD-2.1.1 4.03E-06
30214 83 A/V 168 rs1476886786 0.2799 None gnomAD-4.0.0 2.05317E-06
30217 86 I/T 172 rs776252505 0.1770 None gnomAD-2.1.1 4.03E-06
30217 86 I/T 172 rs776252505 0.1770 None gnomAD-4.0.0 4.77584E-06
30217 86 I/V 172 rs1184438551 0.1770 None gnomAD-3.1.2 6.57E-06
30217 86 I/V 172 rs1184438551 0.1770 None gnomAD-4.0.0 2.43595E-05
30218 87 T/A 173 rs768528782 0.3313 None gnomAD-2.1.1 2.51E-05
30218 87 T/A 173 rs768528782 0.3313 None gnomAD-3.1.2 1.31E-05
30218 87 T/A 173 rs768528782 0.3313 None gnomAD-4.0.0 6.40741E-06
30218 87 T/I 173 rs2154151142 0.3313 None gnomAD-4.0.0 6.84353E-07
30219 88 V/F 177 None 0.3498 None gnomAD-4.0.0 1.36876E-06
30219 88 V/I 177 None 0.3498 None gnomAD-4.0.0 6.84382E-07