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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31113 1 Q/H 1 None 0.4489 None gnomAD-4.0.0 1.59111E-06
31114 2 P/L 2 rs1698006505 0.1016 None gnomAD-4.0.0 4.80129E-06
31115 3 A/P 3 rs1192880016 0.1278 None gnomAD-3.1.2 6.57E-06
31115 3 A/P 3 rs1192880016 0.1278 None gnomAD-4.0.0 6.57237E-06
31115 3 A/V 3 None 0.1278 None gnomAD-4.0.0 6.84183E-07
31117 5 P/L 5 rs1185315737 0.0976 None gnomAD-2.1.1 6.37E-05
31117 5 P/L 5 rs1185315737 0.0976 None gnomAD-3.1.2 1.31E-05
31117 5 P/L 5 rs1185315737 0.0976 None gnomAD-4.0.0 5.07492E-06
31118 6 R/G 6 rs761397221 0.4842 None gnomAD-4.0.0 2.73674E-06
31118 6 R/K 6 rs763830779 0.4842 None gnomAD-2.1.1 4.03E-06
31118 6 R/K 6 rs763830779 0.4842 None gnomAD-4.0.0 1.59113E-06
31118 6 R/S 6 rs2154147269 0.4842 None gnomAD-3.1.2 6.57E-06
31118 6 R/S 6 rs2154147269 0.4842 None gnomAD-4.0.0 2.56178E-06
31119 7 R/K 7 None 0.5587 None gnomAD-4.0.0 1.20032E-06
31120 8 L/F 9 rs1698000478 0.1105 None gnomAD-4.0.0 2.05255E-06
31120 8 L/P 9 rs1310673663 0.1105 None gnomAD-2.1.1 7.15E-06
31120 8 L/P 9 rs1310673663 0.1105 None gnomAD-3.1.2 2.63E-05
31120 8 L/P 9 rs1310673663 0.1105 None gnomAD-4.0.0 8.96709E-06
31120 8 L/R 9 rs1310673663 0.1105 None gnomAD-2.1.1 4.03E-06
31120 8 L/R 9 rs1310673663 0.1105 None gnomAD-4.0.0 1.5911E-06
31120 8 L/V 9 rs1698000478 0.1105 None gnomAD-4.0.0 6.84183E-07
31121 9 D/H 11 rs1387694894 0.3586 None gnomAD-2.1.1 4.03E-06
31121 9 D/H 11 rs1387694894 0.3586 None gnomAD-4.0.0 1.59109E-06
31122 10 V/I 12 None 0.3041 None gnomAD-4.0.0 1.5911E-06
31123 11 V/I 13 rs202096200 0.5360 None gnomAD-2.1.1 4.03E-06
31123 11 V/I 13 rs202096200 0.5360 None gnomAD-4.0.0 4.78926E-06
31123 11 V/L 13 rs202096200 0.5360 None gnomAD-2.1.1 1.0364E-04
31123 11 V/L 13 rs202096200 0.5360 None gnomAD-3.1.2 3.87892E-04
31123 11 V/L 13 rs202096200 0.5360 None 1000 genomes 3.99361E-04
31123 11 V/L 13 rs202096200 0.5360 None gnomAD-4.0.0 7.62164E-05
31124 12 D/A 14 rs775147653 0.5279 None gnomAD-2.1.1 3.18E-05
31124 12 D/A 14 rs775147653 0.5279 None gnomAD-3.1.2 6.57E-06
31124 12 D/A 14 rs775147653 0.5279 None gnomAD-4.0.0 1.23937E-06
31124 12 D/V 14 rs775147653 0.5279 None gnomAD-2.1.1 1.24786E-04
31124 12 D/V 14 rs775147653 0.5279 None gnomAD-3.1.2 6.57E-06
31124 12 D/V 14 rs775147653 0.5279 None gnomAD-4.0.0 1.92102E-05
31125 13 T/S 15 None 0.2009 None gnomAD-4.0.0 2.40064E-06
31126 14 S/C 16 None 0.1723 None gnomAD-4.0.0 6.84181E-07
31126 14 S/G 16 None 0.1723 None gnomAD-4.0.0 6.84181E-07
31126 14 S/R 16 None 0.1723 None gnomAD-4.0.0 1.59112E-06
31127 15 K/R 17 rs1172489914 0.5800 None gnomAD-2.1.1 4.02E-06
31127 15 K/R 17 rs1172489914 0.5800 None gnomAD-4.0.0 1.5911E-06
31129 17 S/F 19 None 0.1846 None gnomAD-4.0.0 2.73673E-06
31130 18 A/S 20 None 0.1008 None gnomAD-4.0.0 6.84182E-07
31130 18 A/T 20 rs759107930 0.1008 None gnomAD-2.1.1 1.61E-05
31130 18 A/T 20 rs759107930 0.1008 None gnomAD-3.1.2 2.63E-05
31130 18 A/T 20 rs759107930 0.1008 None gnomAD-4.0.0 3.65627E-05
31131 19 V/G 21 rs1176407616 0.2436 None gnomAD-2.1.1 1.43E-05
31131 19 V/G 21 rs1176407616 0.2436 None gnomAD-3.1.2 2.63E-05
31131 19 V/G 21 rs1176407616 0.2436 None gnomAD-4.0.0 1.79706E-05
31131 19 V/I 21 None 0.2436 None gnomAD-4.0.0 1.20032E-06
31135 23 L/P 25 rs1284369744 0.5924 None gnomAD-2.1.1 3.19E-05
31135 23 L/P 25 rs1284369744 0.5924 None gnomAD-3.1.2 6.57E-06
31135 23 L/P 25 rs1284369744 0.5924 None gnomAD-4.0.0 2.56197E-06
31136 24 K/I 26 rs1697982034 0.7083 None gnomAD-4.0.0 1.27286E-05
31136 24 K/N 26 None 0.7083 None gnomAD-4.0.0 2.40064E-06
31137 25 P/T 27 None 0.1678 None gnomAD-4.0.0 3.42089E-06
31140 28 D/E 30 rs1697978280 0.3188 None gnomAD-4.0.0 1.59111E-06
31140 28 D/N 30 rs768116289 0.3188 None gnomAD-2.1.1 8.04E-06
31140 28 D/N 30 rs768116289 0.3188 None gnomAD-3.1.2 6.57E-06
31140 28 D/N 30 rs768116289 0.3188 None gnomAD-4.0.0 8.67559E-06
31141 29 G/E 31 rs1184196122 0.0937 None gnomAD-2.1.1 4.02E-06
31141 29 G/E 31 rs1184196122 0.0937 None gnomAD-4.0.0 1.59107E-06
31142 30 G/D 32 rs1559166976 0.2450 None gnomAD-3.1.2 6.57E-06
31142 30 G/D 32 rs1559166976 0.2450 None gnomAD-4.0.0 2.56201E-06
31143 31 S/N 33 rs749127573 0.1864 None gnomAD-2.1.1 4.02E-06
31143 31 S/N 33 rs749127573 0.1864 None gnomAD-4.0.0 1.59108E-06
31143 31 S/R 33 None 0.1864 None gnomAD-4.0.0 8.21014E-06
31144 32 R/G 34 rs770088691 0.7730 None gnomAD-2.1.1 4.02E-06
31144 32 R/G 34 rs770088691 0.7730 None gnomAD-4.0.0 4.78923E-06
31144 32 R/Q 34 rs561941986 0.7730 None gnomAD-2.1.1 1.61E-05
31144 32 R/Q 34 rs561941986 0.7730 None gnomAD-3.1.2 6.58E-06
31144 32 R/Q 34 rs561941986 0.7730 None gnomAD-4.0.0 9.91538E-06
31144 32 R/W 34 rs770088691 0.7730 None gnomAD-2.1.1 8.04E-06
31144 32 R/W 34 rs770088691 0.7730 None gnomAD-3.1.2 6.58E-06
31144 32 R/W 34 rs770088691 0.7730 None gnomAD-4.0.0 5.57738E-06
31146 34 T/I 36 None 0.3908 None gnomAD-4.0.0 1.20032E-06
31146 34 T/S 36 None 0.3908 None gnomAD-4.0.0 1.20032E-06
31147 35 G/V 37 rs1234293999 0.1453 None gnomAD-2.1.1 4.02E-06
31148 36 Y/H 38 rs373131310 0.1334 None gnomAD-2.1.1 3.93E-05
31148 36 Y/H 38 rs373131310 0.1334 None gnomAD-3.1.2 5.26E-05
31148 36 Y/H 38 rs373131310 0.1334 None gnomAD-4.0.0 8.30348E-05
31149 37 L/V 39 None 0.1456 None gnomAD-4.0.0 1.20032E-06
31150 38 L/P 40 None 0.0902 None gnomAD-4.0.0 1.59107E-06
31152 40 M/R 42 None 0.1782 None gnomAD-4.0.0 1.20041E-06
31152 40 M/V 42 None 0.1782 None gnomAD-4.0.0 1.20032E-06
31153 41 R/G 43 None 0.2065 None gnomAD-4.0.0 6.8417E-07
31153 41 R/K 43 None 0.2065 None gnomAD-4.0.0 2.40064E-06
31155 43 K/N 50 rs1351647298 0.4066 None gnomAD-2.1.1 4.02E-06
31155 43 K/N 50 rs1351647298 0.4066 None gnomAD-4.0.0 6.84177E-07
31155 43 K/R 50 rs1230714355 0.4066 None gnomAD-2.1.1 4.02E-06
31155 43 K/R 50 rs1230714355 0.4066 None gnomAD-4.0.0 1.59109E-06
31156 44 G/A 54 None 0.6910 None gnomAD-4.0.0 6.84177E-07
31156 44 G/V 54 None 0.6910 None gnomAD-4.0.0 5.47342E-06
31159 47 F/L 64 rs765476463 0.7730 None gnomAD-2.1.1 8.03E-06
31159 47 F/L 64 rs765476463 0.7730 None gnomAD-4.0.0 1.11375E-05
31159 47 F/S 64 rs1469115773 0.7730 None gnomAD-4.0.0 1.20032E-06
31159 47 F/V 64 None 0.7730 None gnomAD-4.0.0 1.59107E-06
31160 48 W/C 65 None 0.2410 None gnomAD-4.0.0 1.36835E-06
31162 50 E/A 67 rs1553529185 0.4648 None gnomAD-4.0.0 3.18211E-06
31162 50 E/K 67 rs762566802 0.4648 None gnomAD-4.0.0 1.20032E-05
31164 52 G/S 69 None 0.1549 None gnomAD-4.0.0 1.59106E-06
31164 52 G/V 69 rs1303031829 0.1549 None gnomAD-2.1.1 4.02E-06
31164 52 G/V 69 rs1303031829 0.1549 None gnomAD-4.0.0 1.59107E-06
31165 53 H/Q 70 rs752443804 0.5373 None gnomAD-2.1.1 4.02E-06
31165 53 H/Q 70 rs752443804 0.5373 None gnomAD-4.0.0 1.59107E-06
31166 54 T/A 77 rs1409419623 0.1541 None gnomAD-2.1.1 4.02E-06
31166 54 T/A 77 rs1409419623 0.1541 None gnomAD-4.0.0 1.59107E-06
31166 54 T/I 77 None 0.1541 None gnomAD-4.0.0 6.84175E-07
31166 54 T/N 77 rs767243521 0.1541 None gnomAD-2.1.1 4.02E-06
31166 54 T/N 77 rs767243521 0.1541 None gnomAD-4.0.0 2.05253E-06
31168 56 Q/H 88 None 0.6835 None gnomAD-4.0.0 1.59108E-06
31171 59 F/C 91 rs759179376 0.1871 None gnomAD-2.1.1 4.02E-06
31171 59 F/C 91 rs759179376 0.1871 None gnomAD-3.1.2 6.57E-06
31171 59 F/C 91 rs759179376 0.1871 None gnomAD-4.0.0 1.85902E-06
31171 59 F/L 91 None 0.1871 None gnomAD-4.0.0 3.18218E-06
31172 60 T/I 92 None 0.3715 None gnomAD-4.0.0 1.20032E-06
31172 60 T/R 92 None 0.3715 None gnomAD-4.0.0 1.20032E-06
31173 61 V/I 93 rs1440743167 0.1277 None gnomAD-2.1.1 4.02E-06
31174 62 E/G 94 None 0.6782 None gnomAD-4.0.0 4.80129E-06
31175 63 R/C 96 rs766346925 0.8752 None gnomAD-2.1.1 8.03E-06
31175 63 R/C 96 rs766346925 0.8752 None gnomAD-3.1.2 6.58E-06
31175 63 R/C 96 rs766346925 0.8752 None gnomAD-4.0.0 3.7182E-06
31175 63 R/H 96 rs72648251 0.8752 None gnomAD-2.1.1 4.31563E-04
31175 63 R/H 96 rs72648251 0.8752 None gnomAD-3.1.2 2.95792E-04
31175 63 R/H 96 rs72648251 0.8752 None gnomAD-4.0.0 4.41832E-04
31175 63 R/S 96 rs766346925 0.8752 None gnomAD-2.1.1 4.02E-06
31175 63 R/S 96 rs766346925 0.8752 None gnomAD-4.0.0 6.84181E-07
31176 64 L/P 97 rs773083742 0.1146 None gnomAD-2.1.1 1.43E-05
31176 64 L/P 97 rs773083742 0.1146 None gnomAD-3.1.2 3.29E-05
31176 64 L/P 97 rs773083742 0.1146 None gnomAD-4.0.0 3.28614E-05
31177 65 V/F 98 None 0.5127 None gnomAD-4.0.0 6.84177E-07
31177 65 V/I 98 rs769528066 0.5127 None gnomAD-2.1.1 8.03E-06
31179 67 K/N 100 rs776904754 0.7881 None gnomAD-2.1.1 1.2E-05
31179 67 K/N 100 rs776904754 0.7881 None gnomAD-4.0.0 4.78925E-06
31180 68 T/S 102 None 0.1625 None gnomAD-4.0.0 1.20032E-06
31181 69 E/K 103 rs1243301263 0.2097 None gnomAD-2.1.1 4.02E-06
31181 69 E/K 103 rs1243301263 0.2097 None gnomAD-4.0.0 1.59112E-06
31181 69 E/Q 103 None 0.2097 None gnomAD-4.0.0 1.59112E-06
31182 70 Y/C 104 None 0.1289 None gnomAD-4.0.0 1.59109E-06
31183 71 E/G 105 None 0.2245 None gnomAD-4.0.0 1.20032E-06
31184 72 F/V 106 None 0.1448 None gnomAD-4.0.0 8.43601E-06
31185 73 R/C 107 rs768852545 0.1142 None gnomAD-2.1.1 1.43E-05
31185 73 R/C 107 rs768852545 0.1142 None gnomAD-3.1.2 1.97E-05
31185 73 R/C 107 rs768852545 0.1142 None gnomAD-4.0.0 1.11549E-05
31185 73 R/H 107 rs771533925 0.1142 None gnomAD-2.1.1 2.81E-05
31185 73 R/H 107 rs771533925 0.1142 None gnomAD-3.1.2 3.94E-05
31185 73 R/H 107 rs771533925 0.1142 None gnomAD-4.0.0 2.16889E-05
31185 73 R/L 107 rs771533925 0.1142 None gnomAD-2.1.1 4.02E-06
31185 73 R/L 107 rs771533925 0.1142 None gnomAD-4.0.0 6.84174E-07
31187 75 K/N 109 rs1166582202 0.1483 None gnomAD-3.1.2 6.58E-06
31187 75 K/N 109 rs1166582202 0.1483 None gnomAD-4.0.0 6.57514E-06
31188 76 A/T 110 None 0.0698 None gnomAD-4.0.0 1.20032E-06
31188 76 A/V 110 None 0.0698 None gnomAD-4.0.0 1.20032E-06
31190 78 N/K 112 rs746309005 0.0948 None gnomAD-2.1.1 1.5265E-04
31190 78 N/K 112 rs746309005 0.0948 None gnomAD-3.1.2 1.51173E-04
31190 78 N/K 112 rs746309005 0.0948 None gnomAD-4.0.0 4.58556E-05
31191 79 D/E 113 rs965506398 0.7674 None gnomAD-2.1.1 8.03E-06
31191 79 D/E 113 rs965506398 0.7674 None gnomAD-4.0.0 6.36422E-06
31191 79 D/Y 113 None 0.7674 None gnomAD-4.0.0 1.20032E-06
31192 80 A/T 114 rs779450650 0.3191 None gnomAD-2.1.1 8.04E-06
31192 80 A/T 114 rs779450650 0.3191 None gnomAD-4.0.0 1.59108E-06
31193 81 G/C 115 None 0.1771 None gnomAD-4.0.0 2.05252E-06
31193 81 G/D 115 None 0.1771 None gnomAD-4.0.0 1.59109E-06
31193 81 G/V 115 rs754246638 0.1771 None gnomAD-2.1.1 4.02E-06
31193 81 G/V 115 rs754246638 0.1771 None gnomAD-4.0.0 1.59109E-06
31194 82 Y/C 117 rs543223589 0.3544 None gnomAD-2.1.1 4.64E-05
31194 82 Y/C 117 rs543223589 0.3544 None gnomAD-3.1.2 3.94E-05
31194 82 Y/C 117 rs543223589 0.3544 None 1000 genomes 1.99681E-04
31194 82 Y/C 117 rs543223589 0.3544 None gnomAD-4.0.0 2.04475E-05
31195 83 S/G 118 None 0.0813 None gnomAD-4.0.0 1.20032E-06
31195 83 S/N 118 None 0.0813 None gnomAD-4.0.0 6.84179E-07
31195 83 S/T 118 None 0.0813 None gnomAD-4.0.0 6.84179E-07
31198 86 R/G 121 rs751148256 0.3166 None gnomAD-2.1.1 1.21E-05
31198 86 R/G 121 rs751148256 0.3166 None gnomAD-4.0.0 3.18228E-06
31200 88 A/G 123 None 0.2183 None gnomAD-4.0.0 1.36839E-06
31201 89 F/L 124 rs765759269 1.2043 None gnomAD-3.1.2 6.57E-06
31201 89 F/L 124 rs765759269 1.2043 None gnomAD-4.0.0 1.23938E-06
31201 89 F/V 124 None 1.2043 None gnomAD-4.0.0 1.59118E-06
31202 90 S/F 125 rs868211733 0.5795 None gnomAD-2.1.1 4.02E-06
31202 90 S/F 125 rs868211733 0.5795 None gnomAD-3.1.2 1.97E-05
31202 90 S/F 125 rs868211733 0.5795 None gnomAD-4.0.0 1.97195E-05
31203 91 S/C 126 rs1208518110 0.2850 None gnomAD-2.1.1 8.04E-06
31203 91 S/C 126 rs1208518110 0.2850 None gnomAD-4.0.0 6.36485E-06
31203 91 S/P 126 rs1553528649 0.2850 None gnomAD-4.0.0 1.20032E-06
31204 92 V/I 127 rs750367979 0.2455 None gnomAD-2.1.1 8.04E-06
31204 92 V/I 127 rs750367979 0.2455 None gnomAD-4.0.0 3.18249E-06
31205 93 I/V 129 None 0.4285 None gnomAD-4.0.0 1.59126E-06
31206 94 I/F 130 None 0.0637 None gnomAD-4.0.0 6.84218E-07
31206 94 I/L 130 rs1020011607 0.0637 None gnomAD-4.0.0 2.05265E-06
31208 96 E/D 132 None 0.4581 None gnomAD-4.0.0 2.40064E-06
31208 96 E/K 132 rs765216493 0.4581 None gnomAD-2.1.1 4.02E-06
31208 96 E/K 132 rs765216493 0.4581 None gnomAD-4.0.0 1.59142E-06