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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5169 2 T/N 2 rs761475085 0.5487 None gnomAD-4.0.0 1.6477E-06
5169 2 T/S 2 rs761475085 0.5487 None gnomAD-2.1.1 4.17E-06
5169 2 T/S 2 rs761475085 0.5487 None gnomAD-4.0.0 1.6477E-06
5171 4 V/L 4 rs776104290 0.5694 None gnomAD-2.1.1 4.13E-06
5171 4 V/L 4 rs776104290 0.5694 None gnomAD-4.0.0 1.63143E-06
5172 5 K/N 5 None 0.3312 None gnomAD-4.0.0 2.40064E-06
5173 6 K/T 7 None 0.6641 None gnomAD-4.0.0 1.20032E-06
5174 7 V/G 8 None 0.1580 None gnomAD-4.0.0 1.62443E-06
5174 7 V/I 8 rs1169617547 0.1580 None gnomAD-2.1.1 4.11E-06
5174 7 V/I 8 rs1169617547 0.1580 None gnomAD-4.0.0 3.24997E-06
5175 8 D/A 9 rs903635675 0.6083 None gnomAD-2.1.1 4.09E-06
5175 8 D/A 9 rs903635675 0.6083 None gnomAD-4.0.0 3.2444E-06
5175 8 D/E 9 None 0.6083 None gnomAD-4.0.0 1.62141E-06
5175 8 D/G 9 rs903635675 0.6083 None gnomAD-4.0.0 1.6222E-06
5175 8 D/H 9 rs2080971523 0.6083 None gnomAD-4.0.0 1.37983E-06
5175 8 D/N 9 None 0.6083 None gnomAD-4.0.0 6.89914E-07
5176 9 D/Y 11 rs1421517847 0.7413 None gnomAD-2.1.1 4.09E-06
5176 9 D/Y 11 rs1421517847 0.7413 None gnomAD-3.1.2 1.97E-05
5176 9 D/Y 11 rs1421517847 0.7413 None gnomAD-4.0.0 3.12136E-06
5177 10 L/W 13 rs1205797095 0.4093 None gnomAD-3.1.2 6.57E-06
5177 10 L/W 13 rs1205797095 0.4093 None gnomAD-4.0.0 6.5716E-06
5179 12 A/T 16 rs536853382 0.1479 None gnomAD-4.0.0 1.20032E-06
5180 13 L/V 18 None 0.4438 None gnomAD-4.0.0 1.20032E-06
5181 14 G/A 23 rs201185434 0.4170 None gnomAD-2.1.1 4.09427E-04
5181 14 G/A 23 rs201185434 0.4170 None gnomAD-3.1.2 1.00565E-03
5181 14 G/A 23 rs201185434 0.4170 None 1000 genomes 1.39776E-03
5181 14 G/A 23 rs201185434 0.4170 None gnomAD-4.0.0 1.70952E-04
5181 14 G/R 23 rs1477393359 0.4170 None gnomAD-2.1.1 8.1E-06
5181 14 G/R 23 rs1477393359 0.4170 None gnomAD-4.0.0 6.86807E-07
5182 15 G/R 24 rs775552018 0.3377 None gnomAD-2.1.1 2.43E-05
5182 15 G/R 24 rs775552018 0.3377 None gnomAD-3.1.2 6.57E-06
5182 15 G/R 24 rs775552018 0.3377 None gnomAD-4.0.0 6.86816E-07
5184 17 T/A 26 None 0.4333 None gnomAD-4.0.0 1.20032E-06
5184 17 T/I 26 None 0.4333 None gnomAD-4.0.0 6.84379E-07
5184 17 T/N 26 None 0.4333 None gnomAD-4.0.0 6.84379E-07
5185 18 V/A 28 None 0.1770 None gnomAD-4.0.0 6.84303E-07
5185 18 V/D 28 None 0.1770 None gnomAD-4.0.0 6.84303E-07
5185 18 V/I 28 rs370535651 0.1770 None gnomAD-2.1.1 1.037E-04
5185 18 V/I 28 rs370535651 0.1770 None gnomAD-3.1.2 1.44649E-04
5185 18 V/I 28 rs370535651 0.1770 None gnomAD-4.0.0 4.0291E-05
5186 19 T/S 29 None 0.4138 None gnomAD-4.0.0 1.20032E-06
5187 20 L/P 30 None 0.1729 None gnomAD-4.0.0 6.84277E-07
5187 20 L/Q 30 None 0.1729 None gnomAD-4.0.0 6.84277E-07
5188 21 Q/K 31 rs886038908 0.5137 None gnomAD-2.1.1 1.07E-05
5188 21 Q/K 31 rs886038908 0.5137 None gnomAD-3.1.2 1.31E-05
5188 21 Q/K 31 rs886038908 0.5137 None gnomAD-4.0.0 5.57778E-06
5188 21 Q/P 31 rs72648930 0.5137 None gnomAD-2.1.1 1.00032E-03
5188 21 Q/P 31 rs72648930 0.5137 None gnomAD-3.1.2 1.05818E-03
5188 21 Q/P 31 rs72648930 0.5137 None 1000 genomes 1.99681E-04
5188 21 Q/P 31 rs72648930 0.5137 None gnomAD-4.0.0 1.73762E-03
5190 23 A/S 34 None 0.1704 None gnomAD-4.0.0 1.20032E-06
5191 24 V/G 35 None 0.1550 None gnomAD-4.0.0 6.00161E-06
5192 25 R/K 38 None 0.7281 None gnomAD-4.0.0 2.40064E-06
5193 26 G/E 40 rs1345800010 0.4659 None gnomAD-2.1.1 8.04E-06
5193 26 G/E 40 rs1345800010 0.4659 None gnomAD-3.1.2 1.97E-05
5193 26 G/E 40 rs1345800010 0.4659 None gnomAD-4.0.0 1.54937E-05
5193 26 G/R 40 None 0.4659 None gnomAD-4.0.0 1.36845E-06
5195 28 E/G 42 rs72648931 0.8969 None gnomAD-2.1.1 9.81729E-04
5195 28 E/G 42 rs72648931 0.8969 None gnomAD-3.1.2 2.82582E-03
5195 28 E/G 42 rs72648931 0.8969 None 1000 genomes 2.39617E-03
5195 28 E/G 42 rs72648931 0.8969 None gnomAD-4.0.0 4.85801E-04
5197 30 I/L 44 rs781467868 0.1537 None gnomAD-2.1.1 2.41E-05
5197 30 I/L 44 rs781467868 0.1537 None gnomAD-3.1.2 1.97E-05
5197 30 I/L 44 rs781467868 0.1537 None gnomAD-4.0.0 1.15295E-05
5198 31 S/F 45 None 0.3809 None gnomAD-4.0.0 1.20032E-06
5199 32 V/F 46 rs1370452174 0.2509 None gnomAD-4.0.0 7.20193E-06
5202 35 M/I 49 None 0.2109 None gnomAD-4.0.0 1.56042E-05
5202 35 M/K 49 None 0.2109 None gnomAD-2.1.1 8.04E-06
5202 35 M/K 49 None 0.2109 None gnomAD-3.1.2 6.58E-06
5202 35 M/K 49 None 0.2109 None gnomAD-4.0.0 3.7183E-06
5202 35 M/R 49 rs764755768 0.2109 None gnomAD-4.0.0 6.84205E-07
5202 35 M/T 49 rs764755768 0.2109 None gnomAD-2.1.1 4.02E-06
5202 35 M/T 49 rs764755768 0.2109 None gnomAD-4.0.0 6.15785E-06
5204 37 G/D 51 rs1171039782 0.4967 None gnomAD-2.1.1 4.02E-06
5206 39 E/K 55 None 0.8326 None gnomAD-4.0.0 6.00161E-06
5207 40 V/L 56 None 0.5379 None gnomAD-4.0.0 1.20032E-06
5209 42 R/G 59 rs1392727449 0.7862 None gnomAD-2.1.1 4.02E-06
5209 42 R/G 59 rs1392727449 0.7862 None gnomAD-3.1.2 6.57E-06
5209 42 R/G 59 rs1392727449 0.7862 None gnomAD-4.0.0 2.56194E-06
5209 42 R/K 59 None 0.7862 None gnomAD-4.0.0 1.20032E-06
5210 43 E/Q 70 None 0.4683 None gnomAD-4.0.0 1.20032E-06
5211 44 D/A 73 rs1174909402 0.4478 None gnomAD-2.1.1 4.02E-06
5211 44 D/A 73 rs1174909402 0.4478 None gnomAD-4.0.0 1.59118E-06
5211 44 D/E 73 rs534365478 0.4478 None gnomAD-2.1.1 3.19E-05
5211 44 D/E 73 rs534365478 0.4478 None gnomAD-3.1.2 6.58E-06
5211 44 D/E 73 rs534365478 0.4478 None gnomAD-4.0.0 6.57557E-06
5211 44 D/H 73 None 0.4478 None gnomAD-4.0.0 2.05257E-06
5211 44 D/N 73 None 0.4478 None gnomAD-4.0.0 6.84191E-07
5212 45 G/E 102 None 0.6969 None gnomAD-4.0.0 2.40064E-06
5212 45 G/R 102 rs377754692 0.6969 None gnomAD-2.1.1 3.21E-05
5212 45 G/R 102 rs377754692 0.6969 None gnomAD-3.1.2 2.63E-05
5212 45 G/R 102 rs377754692 0.6969 None gnomAD-4.0.0 1.85914E-05
5213 46 K/N 115 rs2080952653 0.6263 None gnomAD-3.1.2 6.57E-06
5213 46 K/N 115 rs2080952653 0.6263 None gnomAD-4.0.0 6.57445E-06
5214 47 I/V 121 None 0.2855 None gnomAD-4.0.0 1.59118E-06
5215 48 K/R 122 None 0.6474 None gnomAD-4.0.0 1.59117E-06
5216 49 M/I 123 None 0.2863 None gnomAD-4.0.0 1.59119E-06
5216 49 M/R 123 None 0.2863 None gnomAD-4.0.0 4.80369E-06
5216 49 M/V 123 rs1175889760 0.2863 None gnomAD-2.1.1 1.61E-05
5216 49 M/V 123 rs1175889760 0.2863 None gnomAD-4.0.0 3.42098E-06
5217 50 S/G 125 rs1481811806 0.4513 None gnomAD-2.1.1 4.02E-06
5217 50 S/G 125 rs1481811806 0.4513 None gnomAD-4.0.0 1.59117E-06
5217 50 S/N 125 rs1479096219 0.4513 None gnomAD-2.1.1 6.37E-05
5217 50 S/N 125 rs1479096219 0.4513 None gnomAD-3.1.2 1.31E-05
5217 50 S/N 125 rs1479096219 0.4513 None gnomAD-4.0.0 1.42528E-05
5218 51 F/S 127 None 0.3524 None gnomAD-4.0.0 1.20032E-06
5218 51 F/V 127 rs1210028177 0.3524 None gnomAD-2.1.1 4.02E-06
5218 51 F/V 127 rs1210028177 0.3524 None gnomAD-4.0.0 1.20032E-06
5219 52 S/P 130 rs759581032 0.4462 None gnomAD-2.1.1 8.03E-06
5219 52 S/P 130 rs759581032 0.4462 None gnomAD-4.0.0 3.18225E-06
5220 53 N/D 131 rs1235055882 1.0092 None gnomAD-2.1.1 4.02E-06
5220 53 N/D 131 rs1235055882 1.0092 None gnomAD-4.0.0 4.77345E-06
5220 53 N/S 131 rs565670799 1.0092 None gnomAD-2.1.1 3.21E-05
5220 53 N/S 131 rs565670799 1.0092 None gnomAD-3.1.2 4.6E-05
5220 53 N/S 131 rs565670799 1.0092 None 1000 genomes 1.99681E-04
5220 53 N/S 131 rs565670799 1.0092 None gnomAD-4.0.0 3.1601E-05
5221 54 G/A 134 rs771186700 0.2152 None gnomAD-2.1.1 4.02E-06
5221 54 G/A 134 rs771186700 0.2152 None gnomAD-4.0.0 6.8419E-07
5221 54 G/D 134 None 0.2152 None gnomAD-2.1.1 4.02E-06
5221 54 G/D 134 None 0.2152 None gnomAD-3.1.2 6.57E-06
5221 54 G/D 134 None 0.2152 None gnomAD-4.0.0 1.23935E-05
5221 54 G/V 134 rs771186700 0.2152 None gnomAD-2.1.1 4.02E-06
5221 54 G/V 134 rs771186700 0.2152 None gnomAD-3.1.2 6.57E-06
5221 54 G/V 134 rs771186700 0.2152 None gnomAD-4.0.0 1.79706E-05
5223 56 A/S 136 rs749315462 0.0991 None gnomAD-4.0.0 1.20032E-06
5223 56 A/T 136 rs749315462 0.0991 None gnomAD-2.1.1 4.02E-06
5224 57 V/F 137 rs773550460 0.2469 None gnomAD-2.1.1 2.01E-05
5224 57 V/F 137 rs773550460 0.2469 None gnomAD-3.1.2 6.57E-06
5224 57 V/F 137 rs773550460 0.2469 None gnomAD-4.0.0 2.43391E-05
5224 57 V/G 137 None 0.2469 None gnomAD-4.0.0 3.60097E-06
5226 59 I/L 139 None 0.3492 None gnomAD-4.0.0 4.77345E-06
5226 59 I/M 139 None 0.3492 None gnomAD-4.0.0 1.59116E-06
5227 60 I/F 140 None 0.1391 None gnomAD-4.0.0 1.59116E-06
5227 60 I/V 140 rs2080946599 0.1391 None gnomAD-3.1.2 6.57E-06
5227 60 I/V 140 rs2080946599 0.1391 None gnomAD-4.0.0 6.57117E-06
5229 62 D/A 143 rs373355675 0.5239 None gnomAD-2.1.1 4.02E-06
5229 62 D/A 143 rs373355675 0.5239 None gnomAD-3.1.2 1.31E-05
5229 62 D/A 143 rs373355675 0.5239 None gnomAD-4.0.0 3.84297E-06
5229 62 D/H 143 None 0.5239 None gnomAD-4.0.0 1.20032E-06
5230 63 V/I 144 rs369294144 0.1049 None gnomAD-2.1.1 4.02E-06
5230 63 V/I 144 rs369294144 0.1049 None gnomAD-3.1.2 6.57E-06
5230 63 V/I 144 rs369294144 0.1049 None gnomAD-4.0.0 2.47869E-06
5232 65 I/L 146 None 0.5349 None gnomAD-4.0.0 1.20032E-06
5233 66 S/G 148 None 0.4448 None gnomAD-4.0.0 1.59119E-06
5233 66 S/R 148 None 0.4448 None gnomAD-4.0.0 1.59119E-06
5234 67 F/L 149 None 0.3036 None gnomAD-4.0.0 1.20032E-06
5235 68 G/R 151 None 0.2446 None gnomAD-4.0.0 1.59126E-06
5236 69 G/D 152 rs755295120 0.2400 None gnomAD-2.1.1 3.22E-05
5236 69 G/D 152 rs755295120 0.2400 None gnomAD-4.0.0 1.43219E-05
5237 70 K/I 153 rs2080944134 0.4913 None gnomAD-4.0.0 6.84216E-07
5237 70 K/T 153 None 0.4913 None gnomAD-4.0.0 6.84216E-07
5239 72 T/K 155 rs756844952 0.2120 None gnomAD-2.1.1 4.02E-06
5239 72 T/K 155 rs756844952 0.2120 None gnomAD-4.0.0 6.84295E-07
5239 72 T/M 155 rs756844952 0.2120 None gnomAD-2.1.1 1.43E-05
5239 72 T/M 155 rs756844952 0.2120 None gnomAD-3.1.2 3.29E-05
5239 72 T/M 155 rs756844952 0.2120 None gnomAD-4.0.0 2.16923E-05
5239 72 T/R 155 None 0.2120 None gnomAD-4.0.0 6.84295E-07
5240 73 C/G 156 None 0.0768 None gnomAD-4.0.0 1.20032E-06
5241 74 L/P 157 rs1448200477 0.2862 None gnomAD-3.1.2 6.57E-06
5241 74 L/P 157 rs1448200477 0.2862 None gnomAD-4.0.0 6.56944E-06
5241 74 L/Q 157 rs1448200477 0.2862 None gnomAD-4.0.0 1.59264E-06
5242 75 A/T 158 rs763604864 0.0975 None gnomAD-2.1.1 4.03E-06
5242 75 A/T 158 rs763604864 0.0975 None gnomAD-4.0.0 1.59333E-06
5244 77 N/D 161 rs2080941316 0.1982 None gnomAD-3.1.2 6.57E-06
5244 77 N/D 161 rs2080941316 0.1982 None gnomAD-4.0.0 6.5697E-06
5244 77 N/S 161 rs755749411 0.1982 None gnomAD-2.1.1 4.03E-06
5244 77 N/S 161 rs755749411 0.1982 None gnomAD-4.0.0 1.36932E-06
5247 80 G/E 164 rs767464148 0.3118 None gnomAD-4.0.0 1.11584E-05
5248 81 S/N 165 rs2080939542 0.5337 None gnomAD-3.1.2 6.57E-06
5248 81 S/N 165 rs2080939542 0.5337 None gnomAD-4.0.0 6.57056E-06
5250 83 T/I 168 rs759384825 0.4335 None gnomAD-2.1.1 4.43E-05
5250 83 T/I 168 rs759384825 0.4335 None gnomAD-3.1.2 6.57E-06
5250 83 T/I 168 rs759384825 0.4335 None gnomAD-4.0.0 1.30232E-05
5250 83 T/P 168 None 0.4335 None gnomAD-4.0.0 1.59445E-06
5251 84 S/C 169 rs770408836 0.1013 None gnomAD-2.1.1 4.03E-06
5251 84 S/C 169 rs770408836 0.1013 None gnomAD-4.0.0 1.59477E-06
5252 85 V/F 171 None 0.4249 None gnomAD-4.0.0 1.20032E-06
5254 87 E/K 173 rs867275748 0.3364 None gnomAD-3.1.2 6.57E-06
5254 87 E/K 173 rs867275748 0.3364 None gnomAD-4.0.0 6.57125E-06
5254 87 E/Q 173 rs867275748 0.3364 None gnomAD-2.1.1 4.03E-06
5254 87 E/Q 173 rs867275748 0.3364 None gnomAD-4.0.0 1.59662E-06
5256 89 I/T 175 rs773177460 0.3975 None gnomAD-2.1.1 4.04E-06
5256 89 I/T 175 rs773177460 0.3975 None gnomAD-3.1.2 6.57E-06
5256 89 I/T 175 rs773177460 0.3975 None gnomAD-4.0.0 2.48319E-06
5257 90 V/L 177 rs879227338 0.1599 None gnomAD-2.1.1 7.17E-06
5257 90 V/L 177 rs879227338 0.1599 None gnomAD-3.1.2 6.57E-06
5257 90 V/L 177 rs879227338 0.1599 None gnomAD-4.0.0 5.14754E-06