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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
L D F A V P L K D V T V P E R R Q A R F E C V L T R E A N V I W S K G P D I I K S S D K F D I I A D G K K H I L V I N D S Q F D D E G V Y T A E V E G K K T S A R L F V T G I R L K F M S P L E D Q T V K E G E T A T F V C E L S H E K M H V V W F K N D A K L H T S R T V L I S S E G K T H K L E M K E V T L D D I S Q I K A Q V K E L S S T A Q L K V L
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - L K F M S P L E D Q T V K E G E T A T F V C E L S H E K M H V V W F K N D A K L H T S R T V L I S S E G K T H K L E M K E V T L D D I S Q I K A Q V K E L S S T A Q L K 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
14144 3 F/I 3 rs1359996660 0.2112 None gnomAD-2.1.1 4.04E-06
14144 3 F/I 3 rs1359996660 0.2112 None gnomAD-4.0.0 1.59352E-06
14145 4 M/T 4 rs794729427 0.3529 None gnomAD-2.1.1 1.07E-05
14145 4 M/T 4 rs794729427 0.3529 None gnomAD-3.1.2 3.29E-05
14145 4 M/T 4 rs794729427 0.3529 None gnomAD-4.0.0 1.17803E-05
14145 4 M/V 4 rs763513073 0.3529 None gnomAD-2.1.1 1.62E-05
14145 4 M/V 4 rs763513073 0.3529 None gnomAD-3.1.2 6.58E-06
14145 4 M/V 4 rs763513073 0.3529 None gnomAD-4.0.0 6.82031E-06
14146 5 S/L 5 rs760628135 0.2410 None gnomAD-2.1.1 4.04E-06
14146 5 S/L 5 rs760628135 0.2410 None gnomAD-4.0.0 1.59317E-06
14147 6 P/R 7 None 0.4030 None gnomAD-4.0.0 6.84534E-07
14147 6 P/T 7 None 0.4030 None gnomAD-4.0.0 3.18598E-06
14149 8 E/K 9 None 0.8162 None gnomAD-4.0.0 1.36901E-06
14149 8 E/Q 9 None 0.8162 None gnomAD-4.0.0 6.84507E-07
14150 9 D/N 11 rs1184338421 0.5145 None gnomAD-2.1.1 3.19E-05
14150 9 D/N 11 rs1184338421 0.5145 None gnomAD-4.0.0 1.20033E-06
14151 10 Q/E 13 None 0.1883 None gnomAD-4.0.0 6.84503E-07
14152 11 T/A 14 rs1472786496 0.4345 None gnomAD-2.1.1 4.03E-06
14152 11 T/A 14 rs1472786496 0.4345 None gnomAD-4.0.0 1.5927E-06
14154 13 K/E 18 rs752701347 0.6586 None gnomAD-2.1.1 4.03E-06
14154 13 K/E 18 rs752701347 0.6586 None gnomAD-4.0.0 1.59257E-06
14155 14 E/G 23 rs767378433 0.5714 None gnomAD-2.1.1 4.03E-06
14155 14 E/G 23 rs767378433 0.5714 None gnomAD-3.1.2 1.32E-05
14155 14 E/G 23 rs767378433 0.5714 None gnomAD-4.0.0 3.04515E-06
14156 15 G/C 24 rs878994668 0.3958 None gnomAD-3.1.2 6.58E-06
14156 15 G/C 24 rs878994668 0.3958 None gnomAD-4.0.0 1.85985E-06
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-2.1.1 8.06E-06
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-3.1.2 1.32E-05
14156 15 G/D 24 rs574305853 0.3958 None gnomAD-4.0.0 1.85988E-06
14156 15 G/R 24 None 0.3958 None gnomAD-4.0.0 1.36889E-06
14156 15 G/S 24 rs878994668 0.3958 None gnomAD-2.1.1 8.06E-06
14156 15 G/S 24 rs878994668 0.3958 None gnomAD-4.0.0 2.05334E-06
14156 15 G/V 24 rs574305853 0.3958 None gnomAD-4.0.0 6.8444E-07
14157 16 E/G 25 None 0.3449 None gnomAD-4.0.0 3.60097E-06
14157 16 E/K 25 rs1207534553 0.3449 None gnomAD-4.0.0 1.59247E-06
14158 17 T/A 26 rs2060122664 0.3300 None gnomAD-3.1.2 6.58E-06
14158 17 T/A 26 rs2060122664 0.3300 None gnomAD-4.0.0 6.57635E-06
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-2.1.1 2.15E-05
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-3.1.2 1.97E-05
14158 17 T/I 26 rs373227762 0.3300 None gnomAD-4.0.0 6.26137E-05
14160 19 T/I 29 None 0.2756 None gnomAD-4.0.0 1.20032E-06
14161 20 F/S 30 rs1270574681 0.1072 None gnomAD-2.1.1 4.03E-06
14161 20 F/S 30 rs1270574681 0.1072 None gnomAD-4.0.0 1.5922E-06
14162 21 V/A 31 None 0.3240 None gnomAD-4.0.0 3.18434E-06
14163 22 C/G 33 rs1310975229 0.1026 None gnomAD-2.1.1 4.03E-06
14163 22 C/G 33 rs1310975229 0.1026 None gnomAD-4.0.0 1.59216E-06
14164 23 E/K 34 rs1211763723 0.2376 None gnomAD-4.0.0 1.20032E-06
14166 25 S/A 38 None 0.1579 None gnomAD-4.0.0 1.20032E-06
14167 26 H/R 40 None 0.5700 None gnomAD-4.0.0 4.80129E-06
14167 26 H/Y 40 None 0.5700 None gnomAD-4.0.0 1.59221E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-2.1.1 4.03E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-3.1.2 6.58E-06
14170 29 M/I 44 rs1380128621 0.4018 None gnomAD-4.0.0 6.84371E-07
14170 29 M/R 44 rs369623392 0.4018 None gnomAD-3.1.2 6.58E-06
14170 29 M/R 44 rs369623392 0.4018 None gnomAD-4.0.0 6.58233E-06
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-2.1.1 1.28754E-04
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-3.1.2 7.24E-05
14170 29 M/T 44 rs369623392 0.4018 None gnomAD-4.0.0 1.53118E-04
14170 29 M/V 44 None 0.4018 None gnomAD-4.0.0 1.59213E-06
14171 30 H/Q 45 rs142842339 0.8425 None gnomAD-4.0.0 6.84363E-07
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-2.1.1 7.15E-06
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-3.1.2 6.58E-06
14171 30 H/R 45 rs1288547551 0.8425 None gnomAD-4.0.0 4.95887E-06
14172 31 V/A 46 rs2060117158 0.1636 None gnomAD-4.0.0 3.18409E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-2.1.1 8.05E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-3.1.2 6.58E-06
14172 31 V/L 46 rs748615976 0.1636 None gnomAD-4.0.0 3.84564E-06
14173 32 V/A 47 None 0.3098 None gnomAD-4.0.0 5.47485E-06
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-2.1.1 4.83E-05
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-3.1.2 2.63E-05
14175 34 F/C 49 rs575813993 0.2055 None 1000 genomes 1.99681E-04
14175 34 F/C 49 rs575813993 0.2055 None gnomAD-4.0.0 5.57838E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-2.1.1 1.43E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-3.1.2 5.92E-05
14175 34 F/S 49 rs575813993 0.2055 None gnomAD-4.0.0 6.81852E-06
14178 37 D/N 52 None 0.8865 None gnomAD-4.0.0 3.60097E-06
14179 38 A/G 55 None 0.3522 None gnomAD-4.0.0 4.79045E-06
14179 38 A/T 55 rs780353399 0.3522 None gnomAD-2.1.1 4.03E-06
14179 38 A/T 55 rs780353399 0.3522 None gnomAD-4.0.0 1.59201E-06
14179 38 A/V 55 None 0.3522 None gnomAD-4.0.0 2.05305E-06
14180 39 K/N 56 None 0.4727 None gnomAD-4.0.0 1.20032E-06
14181 40 L/V 58 None 0.2310 None gnomAD-4.0.0 1.59195E-06
14182 41 H/P 59 rs794729428 0.6934 None gnomAD-4.0.0 2.05301E-06
14183 42 T/A 70 rs72650081 0.6252 None gnomAD-4.0.0 2.73737E-06
14183 42 T/K 70 None 0.6252 None gnomAD-4.0.0 1.20032E-06
14183 42 T/R 70 None 0.6252 None gnomAD-4.0.0 1.20032E-06
14186 45 T/K 115 rs369771893 0.4245 None gnomAD-3.1.2 1.97E-05
14186 45 T/K 115 rs369771893 0.4245 None gnomAD-4.0.0 2.47945E-06
14186 45 T/P 115 rs1187615662 0.4245 None gnomAD-4.0.0 1.59192E-06
14186 45 T/R 115 None 0.4245 None gnomAD-4.0.0 6.84335E-07
14187 46 V/G 121 rs755713534 0.1921 None gnomAD-2.1.1 4.03E-06
14187 46 V/G 121 rs755713534 0.1921 None gnomAD-4.0.0 1.59195E-06
14187 46 V/I 121 None 0.1921 None gnomAD-4.0.0 1.36868E-06
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-2.1.1 8.05E-06
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-3.1.2 1.32E-05
14188 47 L/F 122 rs558930798 0.4056 None 1000 genomes 1.99681E-04
14188 47 L/F 122 rs558930798 0.4056 None gnomAD-4.0.0 3.71888E-06
14188 47 L/R 122 None 0.4056 None gnomAD-4.0.0 2.40065E-06
14188 47 L/V 122 None 0.4056 None gnomAD-4.0.0 6.84339E-07
14189 48 I/F 123 None 0.3306 None gnomAD-4.0.0 1.59193E-06
14190 49 S/F 125 rs755022543 0.4726 None gnomAD-2.1.1 4.03E-06
14190 49 S/Y 125 None 0.4726 None gnomAD-4.0.0 9.60269E-06
14193 52 G/D 131 None 0.4097 None gnomAD-4.0.0 1.59201E-06
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-2.1.1 2.01E-05
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-3.1.2 3.95E-05
14193 52 G/S 131 rs766100670 0.4097 None gnomAD-4.0.0 1.53826E-05
14195 54 T/A 135 None 0.3130 None gnomAD-4.0.0 1.20032E-06
14196 55 H/R 136 None 0.1988 None gnomAD-4.0.0 6.84344E-06
14197 56 K/N 137 None 0.2948 None gnomAD-4.0.0 6.8435E-07
14200 59 M/R 140 None 0.1767 None gnomAD-4.0.0 1.20032E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-2.1.1 4.02E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-3.1.2 6.57E-06
14202 61 E/G 143 rs765485610 0.8122 None gnomAD-4.0.0 5.1265E-06
14203 62 V/M 144 rs761861743 0.1322 None gnomAD-2.1.1 4.02E-06
14203 62 V/M 144 rs761861743 0.1322 None gnomAD-4.0.0 1.592E-06
14204 63 T/P 145 None 0.4022 None gnomAD-4.0.0 2.40065E-06
14205 64 L/V 146 rs747480084 0.5708 None gnomAD-2.1.1 4.02E-06
14205 64 L/V 146 rs747480084 0.5708 None gnomAD-4.0.0 1.36869E-06
14206 65 D/H 148 None 0.9204 None gnomAD-4.0.0 1.20032E-06
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-2.1.1 3.19E-05
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-3.1.2 6.58E-06
14206 65 D/N 148 rs1418013035 0.9204 None gnomAD-4.0.0 6.57566E-06
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-2.1.1 1.21E-05
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-3.1.2 6.58E-06
14208 67 I/T 151 rs1391653235 0.4091 None gnomAD-4.0.0 5.12602E-06
14208 67 I/V 151 rs1447217875 0.4091 None gnomAD-2.1.1 4.02E-06
14208 67 I/V 151 rs1447217875 0.4091 None gnomAD-4.0.0 1.59211E-06
14211 70 I/T 154 None 0.0826 None gnomAD-4.0.0 1.59212E-06
14213 72 A/S 156 None 0.0932 None gnomAD-4.0.0 1.36875E-06
14213 72 A/T 156 rs892930093 0.0932 None gnomAD-4.0.0 1.36875E-06
14214 73 Q/E 157 rs1188613689 0.4059 None gnomAD-2.1.1 4.02E-06
14214 73 Q/E 157 rs1188613689 0.4059 None gnomAD-4.0.0 2.73757E-06
14214 73 Q/P 157 None 0.4059 None gnomAD-4.0.0 2.73803E-06
14215 74 V/F 158 None 0.1782 None gnomAD-4.0.0 1.59218E-06
14216 75 K/Q 159 rs1450576387 0.7409 None gnomAD-2.1.1 8.05E-06
14216 75 K/Q 159 rs1450576387 0.7409 None gnomAD-4.0.0 2.05315E-06
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-2.1.1 4.02E-06
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-3.1.2 1.31E-05
14217 76 E/K 161 rs727503629 0.8383 None gnomAD-4.0.0 1.85961E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-2.1.1 4.02E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-3.1.2 6.57E-06
14219 78 S/N 163 rs748928207 0.3733 None gnomAD-4.0.0 3.09942E-06
14220 79 S/F 169 rs777534842 0.1215 None gnomAD-2.1.1 4.02E-06
14220 79 S/F 169 rs777534842 0.1215 None gnomAD-4.0.0 1.36884E-06
14223 82 Q/H 173 rs371287021 0.2846 None gnomAD-2.1.1 3.19E-05
14226 85 V/I 178 rs1232583484 0.1559 None gnomAD-2.1.1 4.03E-06
14226 85 V/I 178 rs1232583484 0.1559 None gnomAD-4.0.0 1.59314E-06