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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29045 1 D/A 1 rs1364010226 0.4839 None gnomAD-2.1.1 3.18E-05
29045 1 D/A 1 rs1364010226 0.4839 None gnomAD-3.1.2 6.57E-06
29045 1 D/A 1 rs1364010226 0.4839 None gnomAD-4.0.0 6.56892E-06
29045 1 D/G 1 rs1364010226 0.4839 None gnomAD-2.1.1 4.16E-06
29045 1 D/G 1 rs1364010226 0.4839 None gnomAD-4.0.0 1.60851E-06
29045 1 D/H 1 rs775369442 0.4839 None gnomAD-2.1.1 8.33E-06
29045 1 D/H 1 rs775369442 0.4839 None gnomAD-4.0.0 4.82995E-06
29046 2 M/I 2 rs1559264784 0.1836 None gnomAD-4.0.0 6.87441E-07
29046 2 M/K 2 None 0.1836 None gnomAD-4.0.0 1.37497E-06
29046 2 M/R 2 rs143975327 0.1836 None gnomAD-2.1.1 2.13861E-04
29046 2 M/R 2 rs143975327 0.1836 None gnomAD-3.1.2 6.56814E-04
29046 2 M/R 2 rs143975327 0.1836 None 1000 genomes 5.99042E-04
29046 2 M/R 2 rs143975327 0.1836 None gnomAD-4.0.0 1.19481E-04
29046 2 M/T 2 rs143975327 0.1836 None gnomAD-2.1.1 4.17E-06
29046 2 M/T 2 rs143975327 0.1836 None gnomAD-3.1.2 6.57E-06
29046 2 M/T 2 rs143975327 0.1836 None gnomAD-4.0.0 3.11172E-06
29047 3 K/N 3 rs1702242034 0.6570 None gnomAD-4.0.0 1.60761E-06
29047 3 K/R 3 None 0.6570 None gnomAD-4.0.0 1.56044E-05
29051 7 S/G 8 rs1702239501 0.6699 None gnomAD-3.1.2 6.57E-06
29051 7 S/G 8 rs1702239501 0.6699 None gnomAD-4.0.0 6.56909E-06
29053 9 T/I 11 rs573319412 0.1882 None gnomAD-2.1.1 8.58E-05
29053 9 T/I 11 rs573319412 0.1882 None gnomAD-3.1.2 2.63E-05
29053 9 T/I 11 rs573319412 0.1882 None gnomAD-4.0.0 2.29715E-05
29054 10 V/A 13 rs771605613 0.2374 None gnomAD-2.1.1 1.22E-05
29054 10 V/A 13 rs771605613 0.2374 None gnomAD-3.1.2 6.57E-06
29054 10 V/A 13 rs771605613 0.2374 None gnomAD-4.0.0 2.48183E-05
29054 10 V/I 13 rs757488542 0.2374 None gnomAD-2.1.1 4.07E-06
29054 10 V/I 13 rs757488542 0.2374 None gnomAD-4.0.0 4.79273E-06
29057 13 R/T 18 rs753286150 0.6278 None gnomAD-2.1.1 4.04E-06
29057 13 R/T 18 rs753286150 0.6278 None gnomAD-4.0.0 3.18573E-06
29058 14 A/G 23 rs768069933 0.2424 None gnomAD-2.1.1 1.21E-05
29058 14 A/G 23 rs768069933 0.2424 None gnomAD-3.1.2 6.57E-06
29058 14 A/G 23 rs768069933 0.2424 None gnomAD-4.0.0 4.83402E-05
29058 14 A/S 23 None 0.2424 None gnomAD-4.0.0 1.59173E-06
29058 14 A/V 23 rs768069933 0.2424 None gnomAD-2.1.1 4.04E-06
29058 14 A/V 23 rs768069933 0.2424 None gnomAD-4.0.0 1.3686E-06
29059 15 G/D 24 None 0.3591 None gnomAD-4.0.0 1.20032E-06
29061 17 N/D 26 rs755378840 0.6177 None gnomAD-3.1.2 6.57E-06
29061 17 N/D 26 rs755378840 0.6177 None gnomAD-4.0.0 3.09851E-06
29061 17 N/S 26 None 0.6177 None gnomAD-4.0.0 1.20032E-06
29061 17 N/Y 26 rs755378840 0.6177 None gnomAD-2.1.1 4.03E-06
29061 17 N/Y 26 rs755378840 0.6177 None gnomAD-4.0.0 6.84244E-07
29062 18 L/P 28 rs2154156193 0.2224 None gnomAD-4.0.0 1.20032E-06
29062 18 L/V 28 rs1293928808 0.2224 None gnomAD-2.1.1 4.03E-06
29062 18 L/V 28 rs1293928808 0.2224 None gnomAD-4.0.0 1.5915E-06
29063 19 K/Q 29 None 0.4399 None gnomAD-4.0.0 1.43224E-05
29064 20 V/A 30 None 0.1596 None gnomAD-4.0.0 2.73691E-06
29064 20 V/I 30 rs1233850583 0.1596 None gnomAD-2.1.1 4.03E-06
29064 20 V/I 30 rs1233850583 0.1596 None gnomAD-4.0.0 1.59142E-06
29065 21 D/N 31 None 0.4125 None gnomAD-4.0.0 1.36847E-06
29066 22 I/V 33 rs1702228996 0.1265 None gnomAD-4.0.0 1.59132E-06
29067 23 P/L 34 rs878925055 0.3532 None gnomAD-2.1.1 4.03E-06
29067 23 P/L 34 rs878925055 0.3532 None gnomAD-3.1.2 1.31E-05
29067 23 P/L 34 rs878925055 0.3532 None gnomAD-4.0.0 1.73514E-05
29068 24 I/V 35 rs766759385 0.2212 None gnomAD-2.1.1 1.24939E-04
29068 24 I/V 35 rs766759385 0.2212 None gnomAD-3.1.2 6.57E-06
29068 24 I/V 35 rs766759385 0.2212 None gnomAD-4.0.0 5.0814E-05
29069 25 S/P 38 None 0.9625 None gnomAD-4.0.0 1.59128E-06
29073 29 L/I 43 None 0.5717 None gnomAD-4.0.0 1.20032E-06
29074 30 P/A 44 rs761409208 0.2251 None gnomAD-2.1.1 2.5E-05
29074 30 P/A 44 rs761409208 0.2251 None gnomAD-3.1.2 6.57E-05
29074 30 P/A 44 rs761409208 0.2251 None gnomAD-4.0.0 1.05345E-05
29075 31 K/Q 45 rs1324821269 0.8113 None gnomAD-2.1.1 4.03E-06
29075 31 K/Q 45 rs1324821269 0.8113 None gnomAD-4.0.0 1.59117E-06
29076 32 V/A 46 None 0.2461 None gnomAD-4.0.0 2.05256E-06
29076 32 V/L 46 rs776219010 0.2461 None gnomAD-2.1.1 4.03E-06
29077 33 T/A 47 None 0.5238 None gnomAD-4.0.0 1.59114E-06
29077 33 T/I 47 rs763627957 0.5238 None gnomAD-2.1.1 1.21E-05
29077 33 T/I 47 rs763627957 0.5238 None gnomAD-4.0.0 4.78932E-06
29079 35 S/P 49 rs1702220233 0.1561 None gnomAD-4.0.0 1.5911E-06
29080 36 R/G 50 rs760115899 0.2328 None gnomAD-2.1.1 4.03E-06
29080 36 R/G 50 rs760115899 0.2328 None gnomAD-4.0.0 1.59111E-06
29082 38 G/D 52 rs1176561473 0.4812 None gnomAD-2.1.1 3.19E-05
29082 38 G/D 52 rs1176561473 0.4812 None gnomAD-3.1.2 6.57E-06
29082 38 G/D 52 rs1176561473 0.4812 None gnomAD-4.0.0 2.47875E-06
29083 39 V/F 55 rs139099170 0.5842 None gnomAD-2.1.1 4.03E-06
29083 39 V/F 55 rs139099170 0.5842 None gnomAD-3.1.2 6.57E-06
29083 39 V/F 55 rs139099170 0.5842 None 1000 genomes 1.99681E-04
29083 39 V/F 55 rs139099170 0.5842 None gnomAD-4.0.0 6.56737E-06
29083 39 V/I 55 rs139099170 0.5842 None gnomAD-2.1.1 8.05E-06
29083 39 V/I 55 rs139099170 0.5842 None gnomAD-3.1.2 1.97E-05
29083 39 V/I 55 rs139099170 0.5842 None gnomAD-4.0.0 1.97174E-05
29084 40 P/H 56 rs370776552 0.6156 None gnomAD-2.1.1 8.05E-06
29084 40 P/H 56 rs370776552 0.6156 None gnomAD-3.1.2 6.57E-06
29084 40 P/H 56 rs370776552 0.6156 None gnomAD-4.0.0 6.1969E-06
29084 40 P/L 56 None 0.6156 None gnomAD-4.0.0 6.84174E-07
29085 41 L/F 58 rs376026291 0.3428 None gnomAD-2.1.1 4.02E-06
29085 41 L/F 58 rs376026291 0.3428 None gnomAD-3.1.2 1.97E-05
29085 41 L/F 58 rs376026291 0.3428 None gnomAD-4.0.0 4.39971E-05
29085 41 L/I 58 rs376026291 0.3428 None gnomAD-2.1.1 4.02E-06
29085 41 L/I 58 rs376026291 0.3428 None gnomAD-4.0.0 6.84178E-07
29085 41 L/P 58 rs985791328 0.3428 None gnomAD-4.0.0 2.40064E-06
29086 42 K/E 59 None 1.0070 None gnomAD-4.0.0 1.59103E-06
29088 44 T/I 73 rs565333965 0.4116 None gnomAD-2.1.1 2.41E-05
29088 44 T/I 73 rs565333965 0.4116 None gnomAD-3.1.2 2.63E-05
29088 44 T/I 73 rs565333965 0.4116 None 1000 genomes 1.99681E-04
29088 44 T/I 73 rs565333965 0.4116 None gnomAD-4.0.0 5.88637E-05
29088 44 T/P 73 rs1252696671 0.4116 None gnomAD-2.1.1 4.02E-06
29088 44 T/P 73 rs1252696671 0.4116 None gnomAD-4.0.0 1.59103E-06
29089 45 M/K 109 None 0.9906 None gnomAD-4.0.0 6.87474E-07
29089 45 M/R 109 None 0.9906 None gnomAD-4.0.0 7.58752E-04
29089 45 M/T 109 rs185467126 0.9906 None gnomAD-2.1.1 4.29E-05
29089 45 M/T 109 rs185467126 0.9906 None gnomAD-3.1.2 2.63E-05
29089 45 M/T 109 rs185467126 0.9906 None 1000 genomes 3.99361E-04
29089 45 M/T 109 rs185467126 0.9906 None gnomAD-4.0.0 1.24467E-05
29090 46 R/K 115 None 0.2985 None gnomAD-4.0.0 1.20032E-06
29090 46 R/S 115 rs1335648809 0.2985 None gnomAD-3.1.2 1.97E-05
29090 46 R/S 115 rs1335648809 0.2985 None gnomAD-4.0.0 1.36833E-06
29091 47 F/S 121 None 0.2163 None gnomAD-4.0.0 2.40064E-06
29094 50 E/K 125 rs199501185 0.5180 None gnomAD-2.1.1 1.12659E-04
29094 50 E/K 125 rs199501185 0.5180 None gnomAD-3.1.2 8.55E-05
29094 50 E/K 125 rs199501185 0.5180 None gnomAD-4.0.0 1.43146E-04
29096 52 T/A 130 rs1575589104 0.4641 None gnomAD-4.0.0 1.59105E-06
29096 52 T/I 130 None 0.4641 None gnomAD-4.0.0 1.59105E-06
29097 53 A/V 131 None 0.5609 None gnomAD-4.0.0 2.40064E-06
29098 54 E/D 134 rs755499990 0.7384 None gnomAD-2.1.1 4.02E-06
29098 54 E/D 134 rs755499990 0.7384 None gnomAD-4.0.0 1.59102E-06
29098 54 E/K 134 rs369063299 0.7384 None gnomAD-2.1.1 8.05E-06
29098 54 E/K 134 rs369063299 0.7384 None gnomAD-4.0.0 4.10502E-06
29098 54 E/Q 134 rs369063299 0.7384 None gnomAD-2.1.1 4.02E-06
29098 54 E/Q 134 rs369063299 0.7384 None gnomAD-3.1.2 6.57E-06
29098 54 E/Q 134 rs369063299 0.7384 None gnomAD-4.0.0 1.23929E-06
29099 55 N/H 135 rs1702188793 0.3092 None gnomAD-4.0.0 2.40064E-06
29099 55 N/K 135 rs528257030 0.3092 None gnomAD-2.1.1 4.02E-06
29099 55 N/K 135 rs528257030 0.3092 None gnomAD-3.1.2 6.57E-06
29099 55 N/K 135 rs528257030 0.3092 None 1000 genomes 1.99681E-04
29099 55 N/K 135 rs528257030 0.3092 None gnomAD-4.0.0 6.56607E-06
29100 56 L/M 136 rs1702186822 0.1600 None gnomAD-3.1.2 6.57E-06
29100 56 L/M 136 rs1702186822 0.1600 None gnomAD-4.0.0 6.57108E-06
29102 58 I/V 138 rs1396193875 0.1584 None gnomAD-2.1.1 4.02E-06
29102 58 I/V 138 rs1396193875 0.1584 None gnomAD-4.0.0 1.591E-06
29103 59 N/S 139 rs375374455 0.2483 None gnomAD-2.1.1 8.04E-06
29103 59 N/S 139 rs375374455 0.2483 None gnomAD-3.1.2 1.97E-05
29103 59 N/S 139 rs375374455 0.2483 None gnomAD-4.0.0 4.33748E-06
29106 62 E/G 143 rs1559263086 0.7368 None gnomAD-4.0.0 1.59101E-06
29107 63 S/N 144 None 0.1005 None gnomAD-4.0.0 1.36833E-06
29108 64 V/I 145 rs1393606181 0.3591 None gnomAD-2.1.1 8.04E-06
29108 64 V/I 145 rs1393606181 0.3591 None gnomAD-4.0.0 1.59103E-06
29109 65 T/I 146 rs753496654 0.4356 None gnomAD-2.1.1 8.05E-06
29109 65 T/I 146 rs753496654 0.4356 None gnomAD-4.0.0 3.18221E-06
29110 66 A/T 148 rs1462899266 0.4614 None gnomAD-2.1.1 4.02E-06
29110 66 A/T 148 rs1462899266 0.4614 None gnomAD-3.1.2 6.57E-06
29110 66 A/T 148 rs1462899266 0.4614 None gnomAD-4.0.0 1.79698E-05
29110 66 A/V 148 rs763682832 0.4614 None gnomAD-2.1.1 3.62E-05
29110 66 A/V 148 rs763682832 0.4614 None gnomAD-3.1.2 1.31E-05
29110 66 A/V 148 rs763682832 0.4614 None gnomAD-4.0.0 2.54039E-05
29111 67 D/A 149 None 0.1689 None gnomAD-4.0.0 1.20032E-06
29112 68 A/S 151 rs895853838 0.1854 None gnomAD-2.1.1 4.02E-06
29112 68 A/S 151 rs895853838 0.1854 None gnomAD-4.0.0 6.84189E-07
29112 68 A/T 151 rs895853838 0.1854 None gnomAD-2.1.1 4.02E-06
29112 68 A/T 151 rs895853838 0.1854 None gnomAD-3.1.2 1.31E-05
29112 68 A/T 151 rs895853838 0.1854 None gnomAD-4.0.0 1.05344E-05
29113 69 G/E 152 rs1255742276 0.2387 None gnomAD-3.1.2 6.57E-06
29113 69 G/E 152 rs1255742276 0.2387 None gnomAD-4.0.0 4.33774E-06
29113 69 G/R 152 rs373526664 0.2387 None gnomAD-4.0.0 7.52614E-06
29114 70 R/K 153 rs1253866874 0.4063 None gnomAD-2.1.1 8.05E-06
29114 70 R/K 153 rs1253866874 0.4063 None gnomAD-3.1.2 1.97E-05
29114 70 R/K 153 rs1253866874 0.4063 None gnomAD-4.0.0 1.11547E-05
29115 71 Y/D 154 None 0.1290 None gnomAD-4.0.0 6.84212E-07
29115 71 Y/H 154 rs1181280302 0.1290 None gnomAD-2.1.1 4.02E-06
29115 71 Y/H 154 rs1181280302 0.1290 None gnomAD-4.0.0 5.47369E-06
29116 72 E/G 155 None 0.3258 None gnomAD-4.0.0 6.84218E-07
29116 72 E/K 155 rs1472877475 0.3258 None gnomAD-2.1.1 3.18E-05
29118 74 T/A 157 None 0.2404 None gnomAD-4.0.0 1.20032E-05
29118 74 T/I 157 rs1342749098 0.2404 None gnomAD-2.1.1 4.02E-06
29118 74 T/P 157 rs767023377 0.2404 None gnomAD-2.1.1 1.07E-05
29118 74 T/P 157 rs767023377 0.2404 None gnomAD-3.1.2 1.31E-05
29118 74 T/P 157 rs767023377 0.2404 None gnomAD-4.0.0 3.04478E-06
29119 75 A/P 158 None 0.1957 None gnomAD-4.0.0 1.59155E-06
29120 76 A/V 159 None 0.2570 None gnomAD-4.0.0 1.20032E-06
29122 78 S/P 162 None 0.6947 None gnomAD-4.0.0 6.84266E-07
29122 78 S/T 162 rs1231787901 0.6947 None gnomAD-2.1.1 4.02E-06
29122 78 S/T 162 rs1231787901 0.6947 None gnomAD-4.0.0 6.84266E-07
29123 79 S/G 163 rs375198596 0.6662 None gnomAD-2.1.1 4.02E-06
29123 79 S/G 163 rs375198596 0.6662 None gnomAD-3.1.2 6.57E-06
29123 79 S/G 163 rs375198596 0.6662 None gnomAD-4.0.0 6.56996E-06
29123 79 S/R 163 rs375198596 0.6662 None gnomAD-2.1.1 1.00026E-04
29123 79 S/R 163 rs375198596 0.6662 None gnomAD-3.1.2 9.2E-05
29123 79 S/R 163 rs375198596 0.6662 None gnomAD-4.0.0 1.08454E-04
29124 80 G/D 164 None 0.3503 None gnomAD-4.0.0 1.20032E-06
29125 81 T/A 165 rs1433625453 0.5571 None gnomAD-3.1.2 6.57E-06
29125 81 T/A 165 rs1433625453 0.5571 None gnomAD-4.0.0 6.56996E-06
29125 81 T/I 165 rs762768301 0.5571 None gnomAD-3.1.2 1.97E-05
29125 81 T/I 165 rs762768301 0.5571 None gnomAD-4.0.0 3.71881E-06
29125 81 T/K 165 rs762768301 0.5571 None gnomAD-2.1.1 8.05E-06
29125 81 T/K 165 rs762768301 0.5571 None gnomAD-4.0.0 7.52791E-06
29126 82 T/A 166 rs773581788 0.6831 None gnomAD-2.1.1 4.03E-06
29126 82 T/A 166 rs773581788 0.6831 None gnomAD-4.0.0 6.84347E-07
29126 82 T/I 166 rs559269036 0.6831 None gnomAD-2.1.1 8.05E-06
29126 82 T/I 166 rs559269036 0.6831 None gnomAD-3.1.2 1.31E-05
29126 82 T/I 166 rs559269036 0.6831 None 1000 genomes 1.99681E-04
29126 82 T/I 166 rs559269036 0.6831 None gnomAD-4.0.0 3.84422E-06
29126 82 T/S 166 rs559269036 0.6831 None gnomAD-4.0.0 6.84347E-07
29127 83 K/R 168 rs1351987923 0.5040 None gnomAD-3.1.2 6.57E-06
29127 83 K/R 168 rs1351987923 0.5040 None gnomAD-4.0.0 6.57108E-06
29128 84 A/V 169 rs1211271683 0.2835 None gnomAD-2.1.1 4.03E-06
29128 84 A/V 169 rs1211271683 0.2835 None gnomAD-3.1.2 6.57E-06
29128 84 A/V 169 rs1211271683 0.2835 None gnomAD-4.0.0 2.47937E-06
29129 85 F/L 171 rs1335641292 0.2588 None gnomAD-3.1.2 6.57E-06
29129 85 F/L 171 rs1335641292 0.2588 None gnomAD-4.0.0 1.8596E-06
29132 88 I/M 174 rs781458602 0.1520 None gnomAD-4.0.0 1.36891E-06
29132 88 I/T 174 None 0.1520 None gnomAD-4.0.0 3.18512E-06
29132 88 I/V 174 rs748373640 0.1520 None gnomAD-2.1.1 1.21E-05
29132 88 I/V 174 rs748373640 0.1520 None gnomAD-3.1.2 1.31E-05
29132 88 I/V 174 rs748373640 0.1520 None gnomAD-4.0.0 3.71914E-06
29133 89 V/I 175 rs1396011615 0.1949 None gnomAD-2.1.1 4.03E-06
29133 89 V/I 175 rs1396011615 0.1949 None gnomAD-4.0.0 6.84463E-07