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

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
5075 1 P/A 1 rs748837287 0.2044 None gnomAD-2.1.1 4.77E-06
5075 1 P/A 1 rs748837287 0.2044 None gnomAD-4.0.0 5.17204E-06
5075 1 P/L 1 rs1553929816 0.2044 None gnomAD-4.0.0 7.07426E-07
5075 1 P/S 1 None 0.2044 None gnomAD-4.0.0 1.72401E-06
5076 2 S/F 2 None 0.3435 None gnomAD-4.0.0 1.71952E-06
5077 3 F/L 3 rs777568519 0.2151 None gnomAD-2.1.1 4.72E-06
5079 5 K/E 5 rs1327420984 0.4331 None gnomAD-3.1.2 6.57E-06
5079 5 K/E 5 rs1327420984 0.4331 None gnomAD-4.0.0 6.57056E-06
5079 5 K/R 5 None 0.4331 None gnomAD-4.0.0 1.20032E-06
5080 6 T/I 7 rs755865502 0.4588 None gnomAD-2.1.1 4.61E-06
5080 6 T/I 7 rs755865502 0.4588 None gnomAD-4.0.0 1.69801E-06
5083 9 P/A 11 None 0.6522 None gnomAD-4.0.0 9.80048E-06
5083 9 P/T 11 rs1465484453 0.6522 None gnomAD-4.0.0 1.40007E-06
5084 10 A/E 13 rs748125393 0.2975 None gnomAD-2.1.1 4.39E-06
5084 10 A/E 13 rs748125393 0.2975 None gnomAD-4.0.0 4.18523E-06
5084 10 A/V 13 rs748125393 0.2975 None gnomAD-3.1.2 6.57E-06
5084 10 A/V 13 rs748125393 0.2975 None gnomAD-4.0.0 1.26122E-06
5085 11 D/G 14 None 0.8354 None gnomAD-4.0.0 1.3937E-06
5085 11 D/N 14 rs374299783 0.8354 None gnomAD-2.1.1 8.76E-06
5085 11 D/N 14 rs374299783 0.8354 None gnomAD-3.1.2 4.6E-05
5085 11 D/N 14 rs374299783 0.8354 None gnomAD-4.0.0 5.29193E-05
5086 12 I/T 16 rs938020572 0.2153 None gnomAD-4.0.0 3.2832E-06
5086 12 I/V 16 rs1560838962 0.2153 None gnomAD-2.1.1 4.27E-06
5086 12 I/V 16 rs1560838962 0.2153 None gnomAD-4.0.0 2.08059E-06
5087 13 V/M 18 rs751652571 0.7260 None gnomAD-2.1.1 1.5E-05
5087 13 V/M 18 rs751652571 0.7260 None gnomAD-3.1.2 6.57E-06
5087 13 V/M 18 rs751652571 0.7260 None gnomAD-4.0.0 4.38724E-06
5088 14 R/K 23 rs766300782 0.8964 None gnomAD-2.1.1 4.25E-06
5088 14 R/K 23 rs766300782 0.8964 None gnomAD-4.0.0 3.27612E-06
5089 15 G/R 24 None 0.3120 None gnomAD-4.0.0 1.37979E-06
5089 15 G/V 24 rs758657662 0.3120 None gnomAD-2.1.1 8.39E-06
5089 15 G/V 24 rs758657662 0.3120 None gnomAD-3.1.2 6.57E-06
5089 15 G/V 24 rs758657662 0.3120 None gnomAD-4.0.0 2.60064E-06
5090 16 T/A 25 rs905162172 0.3918 None gnomAD-2.1.1 9.55E-05
5090 16 T/A 25 rs905162172 0.3918 None gnomAD-3.1.2 2.63E-05
5090 16 T/A 25 rs905162172 0.3918 None gnomAD-4.0.0 2.62816E-05
5090 16 T/I 25 None 0.3918 None gnomAD-4.0.0 6.88867E-07
5090 16 T/K 25 rs750622009 0.3918 None gnomAD-2.1.1 4.17E-06
5090 16 T/K 25 rs750622009 0.3918 None gnomAD-3.1.2 6.57E-06
5090 16 T/K 25 rs750622009 0.3918 None gnomAD-4.0.0 1.2469E-06
5092 18 A/T 28 rs765723566 0.1371 None gnomAD-2.1.1 2.08E-05
5092 18 A/T 28 rs765723566 0.1371 None gnomAD-4.0.0 1.29085E-05
5092 18 A/V 28 None 0.1371 None gnomAD-4.0.0 1.61129E-06
5093 19 L/I 29 None 0.4744 None gnomAD-4.0.0 6.87004E-07
5093 19 L/V 29 rs764663290 0.4744 None gnomAD-2.1.1 2.47E-05
5093 19 L/V 29 rs764663290 0.4744 None gnomAD-3.1.2 6.57E-06
5093 19 L/V 29 rs764663290 0.4744 None gnomAD-4.0.0 1.43052E-05
5094 20 L/F 30 None 0.1060 None gnomAD-4.0.0 1.20032E-06
5094 20 L/R 30 None 0.1060 None gnomAD-4.0.0 1.60397E-06
5095 21 Q/K 31 None 0.4876 None gnomAD-4.0.0 1.20032E-06
5095 21 Q/R 31 rs2081098001 0.4876 None gnomAD-4.0.0 1.50954E-05
5096 22 C/R 33 None 0.0863 None gnomAD-4.0.0 2.74299E-06
5096 22 C/Y 33 rs761022854 0.0863 None gnomAD-2.1.1 4.07E-06
5096 22 C/Y 33 rs761022854 0.0863 None gnomAD-3.1.2 6.57E-06
5096 22 C/Y 33 rs761022854 0.0863 None gnomAD-4.0.0 6.43041E-06
5097 23 E/G 34 rs1230501060 0.2460 None gnomAD-2.1.1 4.06E-06
5097 23 E/G 34 rs1230501060 0.2460 None gnomAD-4.0.0 1.59678E-06
5098 24 V/A 35 rs1349400261 0.1308 None gnomAD-2.1.1 8.11E-06
5098 24 V/A 35 rs1349400261 0.1308 None gnomAD-4.0.0 6.16535E-06
5100 26 G/C 40 rs2081094538 0.4222 None gnomAD-4.0.0 1.20032E-06
5100 26 G/D 40 rs773928522 0.4222 None gnomAD-2.1.1 4.05E-06
5100 26 G/D 40 rs773928522 0.4222 None gnomAD-4.0.0 6.84813E-07
5100 26 G/V 40 None 0.4222 None gnomAD-4.0.0 1.36963E-05
5102 28 G/R 42 None 0.4151 None gnomAD-4.0.0 1.59285E-06
5103 29 P/L 43 None 0.8680 None gnomAD-4.0.0 1.59216E-06
5103 29 P/T 43 None 0.8680 None gnomAD-4.0.0 1.20032E-06
5105 31 E/A 45 rs1374129248 0.7940 None gnomAD-2.1.1 4.03E-06
5105 31 E/A 45 rs1374129248 0.7940 None gnomAD-4.0.0 1.59167E-06
5107 33 S/I 47 rs748973546 0.2647 None gnomAD-2.1.1 4.03E-06
5107 33 S/I 47 rs748973546 0.2647 None gnomAD-3.1.2 2.63E-05
5107 33 S/I 47 rs748973546 0.2647 None gnomAD-4.0.0 2.72695E-05
5111 37 D/E 51 None 0.4032 None gnomAD-4.0.0 6.84257E-07
5111 37 D/G 51 None 0.4032 None gnomAD-4.0.0 1.20032E-06
5112 38 K/N 52 None 0.8096 None gnomAD-4.0.0 4.77456E-06
5114 40 Q/P 56 None 0.4160 None gnomAD-4.0.0 1.20032E-06
5115 41 I/T 58 rs1436728714 0.1224 None gnomAD-2.1.1 4.02E-06
5115 41 I/T 58 rs1436728714 0.1224 None gnomAD-4.0.0 1.59148E-06
5116 42 R/L 59 rs769626460 0.7702 None gnomAD-2.1.1 4.02E-06
5116 42 R/L 59 rs769626460 0.7702 None gnomAD-4.0.0 6.84277E-07
5116 42 R/P 59 rs769626460 0.7702 None gnomAD-4.0.0 6.84277E-07
5116 42 R/Q 59 None 0.7702 None gnomAD-2.1.1 8.05E-06
5116 42 R/Q 59 None 0.7702 None gnomAD-3.1.2 6.57E-06
5116 42 R/Q 59 None 0.7702 None gnomAD-4.0.0 6.19745E-06
5117 43 S/N 70 None 0.4693 None gnomAD-4.0.0 3.18324E-06
5118 44 S/G 73 rs747924639 0.2857 None gnomAD-2.1.1 4.02E-06
5118 44 S/G 73 rs747924639 0.2857 None gnomAD-4.0.0 1.36847E-06
5118 44 S/R 73 rs747924639 0.2857 None gnomAD-2.1.1 8.04E-06
5118 44 S/R 73 rs747924639 0.2857 None gnomAD-4.0.0 6.84234E-06
5118 44 S/T 73 rs781058314 0.2857 None gnomAD-2.1.1 4.02E-06
5118 44 S/T 73 rs781058314 0.2857 None gnomAD-4.0.0 1.59161E-06
5119 45 K/E 102 rs1183767493 1.0741 None gnomAD-4.0.0 1.59143E-06
5121 47 Y/H 121 rs2081084380 0.1861 None gnomAD-4.0.0 3.18298E-06
5122 48 R/K 122 rs754945452 0.3472 None gnomAD-4.0.0 3.18317E-06
5122 48 R/S 122 rs1275710464 0.3472 None gnomAD-3.1.2 6.57E-06
5122 48 R/S 122 rs1275710464 0.3472 None gnomAD-4.0.0 6.57056E-06
5123 49 L/F 123 rs374506047 0.2666 None gnomAD-2.1.1 8.04E-06
5123 49 L/F 123 rs374506047 0.2666 None gnomAD-4.0.0 1.36855E-06
5123 49 L/V 123 rs571195235 0.2666 None gnomAD-4.0.0 3.60097E-06
5125 51 S/C 127 None 0.4582 None gnomAD-4.0.0 1.5915E-06
5126 52 Q/K 130 rs867299578 0.7381 None gnomAD-2.1.1 4.02E-06
5126 52 Q/K 130 rs867299578 0.7381 None gnomAD-4.0.0 1.59148E-06
5127 53 K/N 131 rs1349879607 1.0062 None gnomAD-2.1.1 8.05E-06
5127 53 K/N 131 rs1349879607 1.0062 None gnomAD-4.0.0 1.3685E-06
5128 54 S/F 134 rs750710170 0.2783 None gnomAD-2.1.1 2.01E-05
5128 54 S/F 134 rs750710170 0.2783 None gnomAD-3.1.2 1.31E-05
5128 54 S/F 134 rs750710170 0.2783 None gnomAD-4.0.0 8.96925E-06
5129 55 L/I 135 None 0.3638 None gnomAD-4.0.0 1.20032E-06
5130 56 V/G 136 rs1348139013 0.1422 None gnomAD-2.1.1 8.05E-06
5130 56 V/G 136 rs1348139013 0.1422 None gnomAD-3.1.2 6.57E-06
5130 56 V/G 136 rs1348139013 0.1422 None gnomAD-4.0.0 3.71817E-06
5130 56 V/L 136 None 0.1422 None gnomAD-4.0.0 1.59146E-06
5130 56 V/M 136 rs765530283 0.1422 None gnomAD-2.1.1 8.05E-06
5130 56 V/M 136 rs765530283 0.1422 None gnomAD-3.1.2 1.97E-05
5130 56 V/M 136 rs765530283 0.1422 None gnomAD-4.0.0 1.15306E-05
5131 57 C/Y 137 rs757766582 0.0831 None gnomAD-2.1.1 7.14E-06
5131 57 C/Y 137 rs757766582 0.0831 None gnomAD-3.1.2 1.31E-05
5131 57 C/Y 137 rs757766582 0.0831 None gnomAD-4.0.0 5.12468E-06
5132 58 L/P 138 None 0.0620 None gnomAD-4.0.0 1.59144E-06
5134 60 I/T 140 rs1362573029 0.0657 None gnomAD-2.1.1 3.18E-05
5134 60 I/T 140 rs1362573029 0.0657 None gnomAD-3.1.2 6.57E-06
5134 60 I/T 140 rs1362573029 0.0657 None gnomAD-4.0.0 6.57082E-06
5136 62 S/L 143 rs764310312 0.4217 None gnomAD-2.1.1 4.03E-06
5136 62 S/L 143 rs764310312 0.4217 None gnomAD-3.1.2 1.97E-05
5136 62 S/L 143 rs764310312 0.4217 None gnomAD-4.0.0 9.29666E-06
5137 63 F/L 144 rs1417172594 0.1083 None gnomAD-2.1.1 8.05E-06
5137 63 F/L 144 rs1417172594 0.1083 None gnomAD-3.1.2 6.57E-06
5137 63 F/L 144 rs1417172594 0.1083 None gnomAD-4.0.0 2.56245E-06
5139 65 S/G 146 rs876658040 0.6917 None gnomAD-4.0.0 1.59162E-06
5139 65 S/N 146 rs2081075120 0.6917 None gnomAD-3.1.2 6.57E-06
5139 65 S/N 146 rs2081075120 0.6917 None gnomAD-4.0.0 1.85922E-06
5140 66 A/V 148 rs753106533 0.4643 None gnomAD-2.1.1 4.03E-06
5140 66 A/V 148 rs753106533 0.4643 None gnomAD-4.0.0 1.36865E-06
5142 68 V/A 151 rs1400360100 0.3218 None gnomAD-2.1.1 3.19E-05
5142 68 V/A 151 rs1400360100 0.3218 None gnomAD-3.1.2 1.31E-05
5142 68 V/A 151 rs1400360100 0.3218 None gnomAD-4.0.0 3.84689E-06
5142 68 V/F 151 rs1417902280 0.3218 None gnomAD-2.1.1 4.03E-06
5142 68 V/F 151 rs1417902280 0.3218 None gnomAD-4.0.0 6.84316E-07
5142 68 V/I 151 None 0.3218 None gnomAD-4.0.0 1.36863E-06
5144 70 E/K 153 rs766612317 0.4105 None gnomAD-2.1.1 1.21E-05
5144 70 E/K 153 rs766612317 0.4105 None gnomAD-3.1.2 1.97E-05
5144 70 E/K 153 rs766612317 0.4105 None gnomAD-4.0.0 5.88951E-05
5147 73 C/Y 156 rs1159353292 0.0696 None gnomAD-2.1.1 4.03E-06
5147 73 C/Y 156 rs1159353292 0.0696 None gnomAD-4.0.0 1.5943E-06
5149 75 V/A 158 rs1367341896 0.1042 None gnomAD-4.0.0 1.59697E-06
5149 75 V/F 158 rs1367681610 0.1042 None gnomAD-2.1.1 3.18E-05
5149 75 V/F 158 rs1367681610 0.1042 None gnomAD-3.1.2 1.31E-05
5149 75 V/F 158 rs1367681610 0.1042 None gnomAD-4.0.0 1.61351E-05
5149 75 V/I 158 rs1367681610 0.1042 None gnomAD-4.0.0 6.853E-07
5150 76 A/T 159 None 0.1632 None gnomAD-4.0.0 1.20032E-06
5150 76 A/V 159 None 0.1632 None gnomAD-4.0.0 2.40064E-06
5152 78 E/K 162 None 0.9917 None gnomAD-4.0.0 6.86655E-07
5153 79 V/D 163 None 0.9389 None gnomAD-4.0.0 1.37438E-06
5154 80 G/R 164 None 0.2746 None gnomAD-4.0.0 6.87922E-07
5154 80 G/S 164 rs772907723 0.2746 None gnomAD-2.1.1 8.14E-06
5154 80 G/S 164 rs772907723 0.2746 None gnomAD-3.1.2 1.31E-05
5154 80 G/S 164 rs772907723 0.2746 None gnomAD-4.0.0 1.30766E-05
5154 80 G/V 164 None 0.2746 None gnomAD-4.0.0 1.61089E-06
5155 81 K/N 165 rs1215311775 0.6088 None gnomAD-2.1.1 4.07E-06
5155 81 K/N 165 rs1215311775 0.6088 None gnomAD-3.1.2 6.57E-06
5155 81 K/N 165 rs1215311775 0.6088 None gnomAD-4.0.0 4.35866E-06
5155 81 K/R 165 rs727504207 0.6088 None gnomAD-4.0.0 1.20032E-06
5156 82 C/Y 166 None 0.1522 None gnomAD-4.0.0 3.60097E-06
5159 85 M/I 171 None 0.4217 None gnomAD-4.0.0 3.26482E-06
5159 85 M/L 171 None 0.4217 None gnomAD-4.0.0 6.90343E-07
5159 85 M/V 171 rs1553929310 0.4217 None gnomAD-4.0.0 1.38069E-06
5160 86 A/T 172 rs769431165 0.1291 None gnomAD-2.1.1 7.34E-06
5160 86 A/T 172 rs769431165 0.1291 None gnomAD-3.1.2 6.57E-06
5160 86 A/T 172 rs769431165 0.1291 None gnomAD-4.0.0 6.25758E-06
5161 87 T/I 173 rs1205352955 0.4367 None gnomAD-2.1.1 4.15E-06
5161 87 T/I 173 rs1205352955 0.4367 None gnomAD-4.0.0 2.0775E-06
5161 87 T/N 173 None 0.4367 None gnomAD-4.0.0 6.92501E-07
5162 88 H/Q 177 None 0.1640 None gnomAD-4.0.0 1.20032E-06
5162 88 H/R 177 rs761387658 0.1640 None gnomAD-2.1.1 4.17E-06
5162 88 H/R 177 rs761387658 0.1640 None gnomAD-4.0.0 3.27872E-06