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

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 0.2971 None gnomAD-2.1.1 4.39E-06
5084 10 A/E 13 rs748125393 0.2971 None gnomAD-4.0.0 4.18523E-06
5084 10 A/V 13 rs748125393 0.2971 None gnomAD-3.1.2 6.57E-06
5084 10 A/V 13 rs748125393 0.2971 None gnomAD-4.0.0 1.26122E-06
5085 11 D/G 14 None 0.3763 None gnomAD-4.0.0 1.3937E-06
5085 11 D/N 14 rs374299783 0.3763 None gnomAD-2.1.1 8.76E-06
5085 11 D/N 14 rs374299783 0.3763 None gnomAD-3.1.2 4.6E-05
5085 11 D/N 14 rs374299783 0.3763 None gnomAD-4.0.0 5.29193E-05
5086 12 I/T 16 rs938020572 0.1389 None gnomAD-4.0.0 3.2832E-06
5086 12 I/V 16 rs1560838962 0.1389 None gnomAD-2.1.1 4.27E-06
5086 12 I/V 16 rs1560838962 0.1389 None gnomAD-4.0.0 2.08059E-06
5087 13 V/M 18 rs751652571 0.3063 None gnomAD-2.1.1 1.5E-05
5087 13 V/M 18 rs751652571 0.3063 None gnomAD-3.1.2 6.57E-06
5087 13 V/M 18 rs751652571 0.3063 None gnomAD-4.0.0 4.38724E-06
5088 14 R/K 23 rs766300782 0.8054 None gnomAD-2.1.1 4.25E-06
5088 14 R/K 23 rs766300782 0.8054 None gnomAD-4.0.0 3.27612E-06
5089 15 G/R 24 None 0.3109 None gnomAD-4.0.0 1.37979E-06
5089 15 G/V 24 rs758657662 0.3109 None gnomAD-2.1.1 8.39E-06
5089 15 G/V 24 rs758657662 0.3109 None gnomAD-3.1.2 6.57E-06
5089 15 G/V 24 rs758657662 0.3109 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 0.0913 None gnomAD-2.1.1 8.05E-06
5137 63 F/L 144 rs1417172594 0.0913 None gnomAD-3.1.2 6.57E-06
5137 63 F/L 144 rs1417172594 0.0913 None gnomAD-4.0.0 2.56245E-06
5139 65 S/G 146 rs876658040 0.6146 None gnomAD-4.0.0 1.59162E-06
5139 65 S/N 146 rs2081075120 0.6146 None gnomAD-3.1.2 6.57E-06
5139 65 S/N 146 rs2081075120 0.6146 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 0.2607 None gnomAD-2.1.1 3.19E-05
5142 68 V/A 151 rs1400360100 0.2607 None gnomAD-3.1.2 1.31E-05
5142 68 V/A 151 rs1400360100 0.2607 None gnomAD-4.0.0 3.84689E-06
5142 68 V/F 151 rs1417902280 0.2607 None gnomAD-2.1.1 4.03E-06
5142 68 V/F 151 rs1417902280 0.2607 None gnomAD-4.0.0 6.84316E-07
5142 68 V/I 151 None 0.2607 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 0.1626 None gnomAD-4.0.0 1.20032E-06
5162 88 H/R 177 rs761387658 0.1626 None gnomAD-2.1.1 4.17E-06
5162 88 H/R 177 rs761387658 0.1626 None gnomAD-4.0.0 3.27872E-06