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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15568 1 P/Q 1 None 0.2125 None gnomAD-4.0.0 1.20032E-06
15568 1 P/S 1 rs561728671 0.2125 None gnomAD-2.1.1 3.26E-05
15568 1 P/S 1 rs561728671 0.2125 None gnomAD-3.1.2 1.32E-05
15568 1 P/S 1 rs561728671 0.2125 None gnomAD-4.0.0 4.22716E-05
15569 2 K/E 2 rs777791019 0.7606 None gnomAD-2.1.1 4.07E-06
15569 2 K/E 2 rs777791019 0.7606 None gnomAD-4.0.0 1.60247E-06
15572 5 T/I 5 rs1398854469 0.4445 None gnomAD-4.0.0 1.37204E-06
15572 5 T/R 5 None 0.4445 None gnomAD-4.0.0 6.86021E-07
15573 6 A/T 7 None 0.7072 None gnomAD-4.0.0 1.60088E-06
15574 7 D/N 8 rs1328343991 0.5374 None gnomAD-3.1.2 6.58E-06
15574 7 D/N 8 rs1328343991 0.5374 None gnomAD-4.0.0 6.58163E-06
15574 7 D/Y 8 None 0.5374 None gnomAD-4.0.0 1.60031E-06
15578 11 V/A 14 None 0.4822 None gnomAD-4.0.0 1.59845E-06
15579 12 V/A 16 None 0.1563 None gnomAD-4.0.0 1.37097E-06
15579 12 V/I 16 rs753144532 0.1563 None gnomAD-2.1.1 4.05E-06
15579 12 V/I 16 rs753144532 0.1563 None gnomAD-4.0.0 1.59837E-06
15581 14 V/A 23 rs767913696 0.5019 None gnomAD-2.1.1 4.05E-06
15581 14 V/A 23 rs767913696 0.5019 None gnomAD-4.0.0 4.11268E-06
15581 14 V/G 23 None 0.5019 None gnomAD-4.0.0 6.85447E-07
15581 14 V/I 23 rs2057792171 0.5019 None gnomAD-3.1.2 6.58E-06
15581 14 V/I 23 rs2057792171 0.5019 None gnomAD-4.0.0 6.58233E-06
15583 16 K/N 25 rs1460478978 0.5824 None gnomAD-2.1.1 3.19E-05
15583 16 K/N 25 rs1460478978 0.5824 None gnomAD-3.1.2 6.58E-06
15583 16 K/N 25 rs1460478978 0.5824 None gnomAD-4.0.0 6.58302E-06
15584 17 P/L 26 rs1170371957 0.5535 None gnomAD-2.1.1 4.05E-06
15584 17 P/L 26 rs1170371957 0.5535 None gnomAD-3.1.2 6.58E-06
15584 17 P/L 26 rs1170371957 0.5535 None gnomAD-4.0.0 3.72432E-06
15584 17 P/S 26 rs751925383 0.5535 None gnomAD-2.1.1 1.08E-05
15584 17 P/S 26 rs751925383 0.5535 None gnomAD-3.1.2 1.32E-05
15584 17 P/S 26 rs751925383 0.5535 None gnomAD-4.0.0 1.31686E-05
15586 19 T/S 29 rs764917649 0.3813 None gnomAD-2.1.1 4.05E-06
15586 19 T/S 29 rs764917649 0.3813 None gnomAD-4.0.0 1.59713E-06
15587 20 M/I 30 rs776451592 0.0943 None gnomAD-2.1.1 8.1E-06
15587 20 M/I 30 rs776451592 0.0943 None gnomAD-3.1.2 6.58E-06
15587 20 M/I 30 rs776451592 0.0943 None gnomAD-4.0.0 1.24127E-06
15587 20 M/T 30 None 0.0943 None gnomAD-4.0.0 1.20032E-06
15587 20 M/V 30 rs761595575 0.0943 None gnomAD-2.1.1 4.05E-06
15587 20 M/V 30 rs761595575 0.0943 None gnomAD-4.0.0 3.42613E-06
15588 21 V/A 31 None 0.3487 None gnomAD-4.0.0 1.20032E-06
15588 21 V/M 31 rs768229241 0.3487 None gnomAD-2.1.1 8.1E-06
15588 21 V/M 31 rs768229241 0.3487 None gnomAD-4.0.0 4.79013E-06
15589 22 V/A 33 rs760270288 0.1544 None gnomAD-2.1.1 4.05E-06
15589 22 V/A 33 rs760270288 0.1544 None gnomAD-4.0.0 3.60097E-06
15589 22 V/L 33 rs2057787860 0.1544 None gnomAD-4.0.0 3.19332E-06
15591 24 Y/C 35 rs771962876 0.0883 None gnomAD-2.1.1 1.22E-05
15591 24 Y/C 35 rs771962876 0.0883 None gnomAD-4.0.0 1.37026E-06
15591 24 Y/H 35 rs775496863 0.0883 None gnomAD-2.1.1 3.23E-05
15591 24 Y/H 35 rs775496863 0.0883 None gnomAD-3.1.2 1.32E-05
15591 24 Y/H 35 rs775496863 0.0883 None gnomAD-4.0.0 1.67538E-05
15593 26 A/T 40 rs1253393520 0.2222 None gnomAD-2.1.1 4.05E-06
15593 26 A/T 40 rs1253393520 0.2222 None gnomAD-4.0.0 1.59636E-06
15594 27 Y/H 41 rs727504196 0.9163 None gnomAD-2.1.1 3.19E-05
15594 27 Y/H 41 rs727504196 0.9163 None gnomAD-3.1.2 6.58E-06
15594 27 Y/H 41 rs727504196 0.9163 None gnomAD-4.0.0 2.35807E-05
15595 28 P/R 42 None 0.3069 None gnomAD-4.0.0 2.40064E-06
15595 28 P/S 42 None 0.3069 None gnomAD-4.0.0 1.20032E-06
15596 29 K/N 43 rs1576521599 0.3542 None gnomAD-4.0.0 1.59587E-06
15597 30 A/E 44 None 0.0960 None gnomAD-4.0.0 4.11043E-06
15597 30 A/V 44 None 0.0960 None gnomAD-4.0.0 6.8507E-07
15598 31 E/D 45 rs371987003 0.8573 None gnomAD-3.1.2 1.32E-05
15598 31 E/D 45 rs371987003 0.8573 None gnomAD-4.0.0 9.92776E-06
15598 31 E/K 45 None 0.8573 None gnomAD-4.0.0 1.59583E-06
15601 34 W/C 48 None 0.1096 None gnomAD-4.0.0 1.59569E-06
15601 34 W/R 48 None 0.1096 None gnomAD-4.0.0 1.20032E-06
15603 36 K/E 50 None 0.1794 None gnomAD-4.0.0 1.20032E-06
15604 37 E/K 51 rs749463044 0.6572 None gnomAD-2.1.1 4.05E-06
15604 37 E/K 51 rs749463044 0.6572 None gnomAD-4.0.0 1.36996E-06
15605 38 N/K 52 rs777985762 0.8452 None gnomAD-2.1.1 8.1E-06
15605 38 N/K 52 rs777985762 0.8452 None gnomAD-3.1.2 6.59E-06
15605 38 N/K 52 rs777985762 0.8452 None gnomAD-4.0.0 1.8613E-06
15605 38 N/S 52 None 0.8452 None gnomAD-4.0.0 3.19062E-06
15607 40 P/L 56 None 0.5609 None gnomAD-4.0.0 1.20032E-06
15608 41 L/F 58 rs1352381229 0.2105 None gnomAD-2.1.1 8.09E-06
15608 41 L/F 58 rs1352381229 0.2105 None gnomAD-4.0.0 6.8493E-07
15608 41 L/S 58 rs397517588 0.2105 None gnomAD-2.1.1 1.86143E-04
15608 41 L/S 58 rs397517588 0.2105 None gnomAD-3.1.2 2.63E-05
15608 41 L/S 58 rs397517588 0.2105 None gnomAD-4.0.0 8.93353E-05
15608 41 L/V 58 rs1400702923 0.2105 None gnomAD-2.1.1 3.19E-05
15609 42 S/C 59 rs2057780227 0.3922 None gnomAD-4.0.0 1.59519E-06
15609 42 S/P 59 None 0.3922 None gnomAD-4.0.0 1.59522E-06
15610 43 T/I 70 rs748293286 0.7490 None gnomAD-2.1.1 4.05E-06
15612 45 T/A 122 rs2057779557 0.2970 None gnomAD-3.1.2 6.59E-06
15612 45 T/A 122 rs2057779557 0.2970 None gnomAD-4.0.0 6.58519E-06
15613 46 I/T 123 rs879064998 0.1592 None gnomAD-2.1.1 3.19E-05
15613 46 I/T 123 rs879064998 0.1592 None gnomAD-3.1.2 1.32E-05
15613 46 I/T 123 rs879064998 0.1592 None gnomAD-4.0.0 1.31705E-05
15615 48 T/I 127 rs781713686 0.2314 None gnomAD-2.1.1 4.04E-06
15615 48 T/I 127 rs781713686 0.2314 None gnomAD-4.0.0 3.18961E-06
15616 49 T/A 130 rs794727331 0.3371 None gnomAD-3.1.2 6.58E-06
15616 49 T/A 130 rs794727331 0.3371 None gnomAD-4.0.0 1.11655E-05
15616 49 T/M 130 rs368057764 0.3371 None gnomAD-2.1.1 2.15173E-04
15616 49 T/M 130 rs368057764 0.3371 None gnomAD-3.1.2 1.11969E-04
15616 49 T/M 130 rs368057764 0.3371 None 1000 genomes 5.99042E-04
15616 49 T/M 130 rs368057764 0.3371 None gnomAD-4.0.0 9.67704E-05
15616 49 T/R 130 rs368057764 0.3371 None gnomAD-3.1.2 6.59E-06
15616 49 T/R 130 rs368057764 0.3371 None gnomAD-4.0.0 6.5864E-06
15617 50 A/T 131 rs1467341061 0.4800 None gnomAD-2.1.1 4.04E-06
15617 50 A/T 131 rs1467341061 0.4800 None gnomAD-4.0.0 1.36969E-06
15618 51 E/K 134 None 0.7690 None gnomAD-4.0.0 1.20032E-06
15621 54 S/A 137 None 0.1669 None gnomAD-4.0.0 1.59483E-06
15622 55 F/L 138 rs758851565 0.1134 None gnomAD-3.1.2 6.58E-06
15622 55 F/L 138 rs758851565 0.1134 None gnomAD-4.0.0 1.59483E-06
15623 56 R/G 139 None 0.5969 None gnomAD-4.0.0 1.5947E-06
15625 58 L/S 141 None 0.8818 None gnomAD-4.0.0 1.59468E-06
15626 59 E/G 143 rs753479822 0.6113 None gnomAD-2.1.1 4.03E-06
15626 59 E/G 143 rs753479822 0.6113 None gnomAD-4.0.0 1.59455E-06
15627 60 A/D 144 rs115813214 0.1093 None gnomAD-2.1.1 4.04E-06
15627 60 A/D 144 rs115813214 0.1093 None gnomAD-4.0.0 6.84837E-07
15627 60 A/P 144 None 0.1093 None gnomAD-4.0.0 6.84825E-07
15627 60 A/S 144 None 0.1093 None gnomAD-4.0.0 6.84825E-07
15627 60 A/T 144 rs1576520581 0.1093 None gnomAD-4.0.0 6.84825E-07
15627 60 A/V 144 rs115813214 0.1093 None gnomAD-2.1.1 5.66105E-04
15627 60 A/V 144 rs115813214 0.1093 None gnomAD-3.1.2 1.44356E-03
15627 60 A/V 144 rs115813214 0.1093 None 1000 genomes 7.98722E-04
15627 60 A/V 144 rs115813214 0.1093 None gnomAD-4.0.0 2.65504E-04
15628 61 K/R 145 rs2057772159 0.6211 None gnomAD-4.0.0 2.05437E-06
15629 62 K/R 146 rs774914362 0.9546 None gnomAD-2.1.1 4.03E-06
15630 63 G/R 148 None 0.4050 None gnomAD-4.0.0 1.59439E-06
15631 64 D/E 149 rs372868510 0.2620 None gnomAD-2.1.1 1.79E-05
15631 64 D/E 149 rs372868510 0.2620 None gnomAD-3.1.2 3.95E-05
15631 64 D/E 149 rs372868510 0.2620 None gnomAD-4.0.0 4.90029E-05
15633 66 G/R 152 rs1189365839 0.2032 None gnomAD-2.1.1 3.19E-05
15633 66 G/R 152 rs1189365839 0.2032 None gnomAD-3.1.2 6.58E-06
15633 66 G/R 152 rs1189365839 0.2032 None gnomAD-4.0.0 6.58215E-06
15634 67 R/K 153 None 0.3604 None gnomAD-4.0.0 1.5944E-06
15634 67 R/S 153 None 0.3604 None gnomAD-4.0.0 6.84754E-07
15637 70 I/L 156 rs1029825916 0.0753 None gnomAD-4.0.0 2.73894E-06
15637 70 I/T 156 None 0.0753 None gnomAD-4.0.0 1.59407E-06
15637 70 I/V 156 None 0.0753 None gnomAD-4.0.0 1.36947E-06
15639 72 L/F 158 rs1226774486 0.1081 None gnomAD-3.1.2 6.58E-06
15639 72 L/F 158 rs1226774486 0.1081 None gnomAD-4.0.0 3.85041E-06
15640 73 Q/R 159 None 0.5446 None gnomAD-4.0.0 1.20032E-06
15641 74 N/K 161 None 0.1399 None gnomAD-4.0.0 1.59452E-06
15642 75 K/T 162 None 0.5367 None gnomAD-4.0.0 1.20032E-06
15643 76 H/Q 163 rs770655963 0.6473 None gnomAD-2.1.1 4.04E-06
15643 76 H/Q 163 rs770655963 0.6473 None gnomAD-4.0.0 2.73946E-06
15643 76 H/R 163 rs368502650 0.6473 None gnomAD-2.1.1 2.184E-04
15643 76 H/R 163 rs368502650 0.6473 None gnomAD-3.1.2 2.36904E-04
15643 76 H/R 163 rs368502650 0.6473 None 1000 genomes 1.99681E-04
15643 76 H/R 163 rs368502650 0.6473 None gnomAD-4.0.0 2.72903E-04
15645 78 K/R 165 rs2057766757 0.4116 None gnomAD-4.0.0 3.34922E-05
15646 79 A/T 166 None 0.1764 None gnomAD-4.0.0 8.40225E-06
15647 80 E/V 168 rs749085231 0.4093 None gnomAD-2.1.1 4.04E-06
15647 80 E/V 168 rs749085231 0.4093 None gnomAD-4.0.0 1.5949E-06
15648 81 G/E 169 rs1060500413 0.1788 None gnomAD-2.1.1 4.04E-06
15648 81 G/E 169 rs1060500413 0.1788 None gnomAD-4.0.0 2.73959E-06
15649 82 F/L 171 rs563370509 0.2638 None gnomAD-2.1.1 3.19E-05
15649 82 F/L 171 rs563370509 0.2638 None gnomAD-3.1.2 6.58E-06
15649 82 F/L 171 rs563370509 0.2638 None gnomAD-4.0.0 4.34229E-06
15650 83 I/M 172 rs1397752957 0.0997 None gnomAD-2.1.1 4.04E-06
15650 83 I/M 172 rs1397752957 0.0997 None gnomAD-4.0.0 6.84999E-07
15652 85 L/S 174 rs1203067813 0.1257 None gnomAD-2.1.1 3.19E-05
15652 85 L/S 174 rs1203067813 0.1257 None gnomAD-3.1.2 6.58E-06
15652 85 L/S 174 rs1203067813 0.1257 None gnomAD-4.0.0 6.58215E-06
15652 85 L/V 174 rs770057187 0.1257 None gnomAD-2.1.1 4.04E-06
15652 85 L/V 174 rs770057187 0.1257 None gnomAD-4.0.0 1.59568E-06