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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33689 1 V/A 1 None 0.2644 None gnomAD-4.0.0 1.20032E-06
33690 2 P/S 2 None 0.0918 None gnomAD-4.0.0 6.84201E-07
33691 3 D/E 3 rs1342398434 0.3697 None gnomAD-2.1.1 4.02E-06
33691 3 D/E 3 rs1342398434 0.3697 None gnomAD-4.0.0 3.18235E-06
33692 4 P/R 4 rs755832382 0.2597 None gnomAD-2.1.1 4.02E-06
33692 4 P/R 4 rs755832382 0.2597 None gnomAD-4.0.0 1.59118E-06
33694 6 R/K 6 rs747732590 0.5320 None gnomAD-2.1.1 4.02E-06
33694 6 R/K 6 rs747732590 0.5320 None gnomAD-3.1.2 6.57E-06
33694 6 R/K 6 rs747732590 0.5320 None gnomAD-4.0.0 5.12394E-06
33694 6 R/T 6 rs747732590 0.5320 None gnomAD-3.1.2 6.57E-06
33694 6 R/T 6 rs747732590 0.5320 None gnomAD-4.0.0 6.57065E-06
33695 7 G/E 7 rs1553499879 0.3891 None gnomAD-4.0.0 2.73678E-06
33697 9 K/T 11 rs1691033741 0.7252 None gnomAD-4.0.0 1.20032E-06
33699 11 S/T 13 rs1691031638 0.2646 None gnomAD-4.0.0 1.20032E-06
33700 12 D/G 14 None 0.6409 None gnomAD-4.0.0 1.36839E-06
33700 12 D/H 14 rs878858552 0.6409 None gnomAD-4.0.0 2.73678E-06
33700 12 D/N 14 None 0.6409 None gnomAD-4.0.0 6.84194E-07
33701 13 V/I 15 rs754435284 0.2456 None gnomAD-2.1.1 4.02E-06
33701 13 V/I 15 rs754435284 0.2456 None gnomAD-3.1.2 6.57E-06
33701 13 V/I 15 rs754435284 0.2456 None gnomAD-4.0.0 3.84281E-06
33702 14 S/P 16 rs751545599 0.1917 None gnomAD-2.1.1 4.02E-06
33702 14 S/P 16 rs751545599 0.1917 None gnomAD-4.0.0 1.59118E-06
33703 15 R/L 17 rs576025689 0.5246 None gnomAD-4.0.0 1.3684E-06
33703 15 R/Q 17 rs576025689 0.5246 None gnomAD-2.1.1 2.01E-05
33703 15 R/Q 17 rs576025689 0.5246 None gnomAD-3.1.2 3.29E-05
33703 15 R/Q 17 rs576025689 0.5246 None 1000 genomes 1.99681E-04
33703 15 R/Q 17 rs576025689 0.5246 None gnomAD-4.0.0 1.42517E-05
33704 16 D/E 18 None 0.4294 None gnomAD-4.0.0 2.40064E-06
33706 18 V/A 20 rs1261733710 0.1006 None gnomAD-2.1.1 4.02E-06
33706 18 V/A 20 rs1261733710 0.1006 None gnomAD-4.0.0 3.60097E-06
33706 18 V/L 20 None 0.1006 None gnomAD-4.0.0 1.20032E-06
33707 19 N/S 21 rs1691011936 0.3468 None gnomAD-4.0.0 1.20032E-06
33709 21 T/I 23 None 0.3733 None gnomAD-4.0.0 1.3684E-06
33709 21 T/K 23 None 0.3733 None gnomAD-4.0.0 6.84201E-07
33711 23 T/I 25 rs1248094195 0.5145 None gnomAD-2.1.1 4.02E-06
33711 23 T/S 25 None 0.5145 None gnomAD-4.0.0 1.20032E-06
33712 24 E/D 26 rs1060503937 0.6032 None gnomAD-2.1.1 4.02E-06
33712 24 E/D 26 rs1060503937 0.6032 None gnomAD-4.0.0 6.84207E-07
33713 25 P/A 27 None 0.1584 None gnomAD-4.0.0 6.84208E-07
33713 25 P/L 27 rs1317049640 0.1584 None gnomAD-2.1.1 4.02E-06
33713 25 P/L 27 rs1317049640 0.1584 None gnomAD-4.0.0 2.0526E-06
33713 25 P/S 27 None 0.1584 None gnomAD-4.0.0 6.84208E-07
33714 26 A/T 28 rs776948324 0.4980 None gnomAD-2.1.1 4.02E-06
33714 26 A/T 28 rs776948324 0.4980 None gnomAD-4.0.0 1.23157E-05
33715 27 S/F 29 rs755892166 0.2710 None gnomAD-2.1.1 1.21E-05
33715 27 S/F 29 rs755892166 0.2710 None gnomAD-3.1.2 1.31E-05
33715 27 S/F 29 rs755892166 0.2710 None gnomAD-4.0.0 1.11533E-05
33715 27 S/P 29 None 0.2710 None gnomAD-4.0.0 1.20032E-06
33716 28 D/G 30 rs1300576084 0.2493 None gnomAD-2.1.1 4.02E-06
33716 28 D/G 30 rs1300576084 0.2493 None gnomAD-4.0.0 1.59115E-06
33716 28 D/N 30 None 0.2493 None gnomAD-4.0.0 1.5912E-06
33718 30 G/S 32 rs760711365 0.4120 None gnomAD-2.1.1 4.02E-06
33718 30 G/S 32 rs760711365 0.4120 None gnomAD-4.0.0 1.59119E-06
33719 31 S/C 33 rs2154136682 0.1544 None gnomAD-4.0.0 1.20032E-06
33720 32 K/R 34 rs727503535 0.8163 None gnomAD-2.1.1 2.01E-05
33720 32 K/R 34 rs727503535 0.8163 None gnomAD-4.0.0 9.54678E-06
33722 34 T/I 36 rs1372744849 0.3229 None gnomAD-3.1.2 6.57E-06
33722 34 T/I 36 rs1372744849 0.3229 None gnomAD-4.0.0 2.56195E-06
33722 34 T/S 36 None 0.3229 None gnomAD-4.0.0 3.18234E-06
33724 36 Y/C 38 None 0.1162 None gnomAD-4.0.0 1.20032E-06
33725 37 I/F 39 None 0.1659 None gnomAD-4.0.0 6.84188E-07
33725 37 I/T 39 rs1329737429 0.1659 None gnomAD-2.1.1 7.14E-06
33725 37 I/T 39 rs1329737429 0.1659 None gnomAD-3.1.2 1.31E-05
33725 37 I/T 39 rs1329737429 0.1659 None gnomAD-4.0.0 5.57685E-06
33725 37 I/V 39 rs878900245 0.1659 None gnomAD-2.1.1 1.21E-05
33725 37 I/V 39 rs878900245 0.1659 None gnomAD-3.1.2 6.57E-06
33725 37 I/V 39 rs878900245 0.1659 None gnomAD-4.0.0 1.92088E-05
33726 38 V/A 40 None 0.1010 None gnomAD-4.0.0 2.40064E-06
33728 40 K/N 42 None 0.2110 None gnomAD-4.0.0 1.59125E-06
33728 40 K/T 42 None 0.2110 None gnomAD-4.0.0 1.59115E-06
33729 41 C/Y 43 None 0.0832 None gnomAD-4.0.0 1.59115E-06
33730 42 A/V 44 rs1690988435 0.1910 None gnomAD-3.1.2 6.57E-06
33730 42 A/V 44 rs1690988435 0.1910 None gnomAD-4.0.0 2.56211E-06
33731 43 T/A 50 rs746383312 0.3920 None gnomAD-2.1.1 4.02E-06
33731 43 T/A 50 rs746383312 0.3920 None gnomAD-4.0.0 1.20032E-06
33732 44 T/A 54 rs1690986189 0.8894 None gnomAD-4.0.0 2.40064E-06
33732 44 T/I 54 rs1690985152 0.8894 None gnomAD-3.1.2 6.57E-06
33732 44 T/I 54 rs1690985152 0.8894 None gnomAD-4.0.0 2.56187E-06
33733 45 A/V 60 None 0.3482 None gnomAD-4.0.0 3.18238E-06
33734 46 E/Q 63 None 1.0729 None gnomAD-4.0.0 1.20032E-06
33737 49 L/F 66 rs1690979679 0.5030 None gnomAD-4.0.0 1.20032E-06
33738 50 R/C 67 rs56273463 0.4124 None gnomAD-2.1.1 5.62195E-03
33738 50 R/C 67 rs56273463 0.4124 None gnomAD-3.1.2 5.99495E-03
33738 50 R/C 67 rs56273463 0.4124 None 1000 genomes 2.79553E-03
33738 50 R/C 67 rs56273463 0.4124 None gnomAD-4.0.0 8.66767E-03
33738 50 R/H 67 rs192391568 0.4124 None gnomAD-2.1.1 1.14138E-04
33738 50 R/H 67 rs192391568 0.4124 None gnomAD-3.1.2 6.57E-05
33738 50 R/H 67 rs192391568 0.4124 None 1000 genomes 3.99361E-04
33738 50 R/H 67 rs192391568 0.4124 None gnomAD-4.0.0 5.63842E-05
33738 50 R/S 67 None 0.4124 None gnomAD-4.0.0 6.84197E-07
33740 52 G/R 69 rs536705240 0.1779 None gnomAD-2.1.1 2.14E-05
33740 52 G/R 69 rs536705240 0.1779 None gnomAD-3.1.2 5.91E-05
33740 52 G/R 69 rs536705240 0.1779 None gnomAD-4.0.0 1.67297E-05
33741 53 Q/E 70 None 0.3781 None gnomAD-4.0.0 6.84185E-07
33741 53 Q/H 70 rs754625556 0.3781 None gnomAD-2.1.1 4.02E-06
33741 53 Q/H 70 rs754625556 0.3781 None gnomAD-4.0.0 1.5911E-06
33743 55 R/L 83 None 0.8610 None gnomAD-4.0.0 6.84183E-07
33743 55 R/Q 83 rs746547856 0.8610 None gnomAD-2.1.1 7.13E-06
33743 55 R/Q 83 rs746547856 0.8610 None gnomAD-3.1.2 1.31E-05
33743 55 R/Q 83 rs746547856 0.8610 None gnomAD-4.0.0 1.1154E-05
33745 57 T/R 89 None 0.2691 None gnomAD-4.0.0 1.20032E-06
33746 58 R/C 90 rs199594729 0.5664 None gnomAD-2.1.1 1.61E-05
33746 58 R/C 90 rs199594729 0.5664 None gnomAD-3.1.2 3.29E-05
33746 58 R/C 90 rs199594729 0.5664 None gnomAD-4.0.0 9.91489E-06
33746 58 R/H 90 rs372584865 0.5664 None gnomAD-2.1.1 1.61E-05
33746 58 R/H 90 rs372584865 0.5664 None gnomAD-3.1.2 6.57E-06
33746 58 R/H 90 rs372584865 0.5664 None gnomAD-4.0.0 1.61112E-05
33746 58 R/P 90 rs372584865 0.5664 None gnomAD-3.1.2 6.57E-06
33746 58 R/P 90 rs372584865 0.5664 None gnomAD-4.0.0 2.47865E-06
33747 59 Y/C 91 None 0.2550 None gnomAD-4.0.0 1.20032E-06
33747 59 Y/H 91 rs1310463317 0.2550 None gnomAD-2.1.1 4.02E-06
33747 59 Y/H 91 rs1310463317 0.2550 None gnomAD-4.0.0 1.59108E-06
33748 60 T/I 92 rs750315507 0.3804 None gnomAD-2.1.1 8.04E-06
33748 60 T/I 92 rs750315507 0.3804 None gnomAD-4.0.0 1.36836E-06
33749 61 V/A 93 None 0.1043 None gnomAD-4.0.0 1.20032E-06
33749 61 V/G 93 None 0.1043 None gnomAD-4.0.0 1.20032E-06
33749 61 V/M 93 rs201554140 0.1043 None gnomAD-2.1.1 7.92014E-04
33749 61 V/M 93 rs201554140 0.1043 None gnomAD-3.1.2 2.01748E-03
33749 61 V/M 93 rs201554140 0.1043 None 1000 genomes 1.39776E-03
33749 61 V/M 93 rs201554140 0.1043 None gnomAD-4.0.0 4.27539E-04
33750 62 I/F 94 rs1690954165 0.5853 None gnomAD-4.0.0 6.3642E-06
33750 62 I/T 94 None 0.5853 None gnomAD-4.0.0 1.36834E-06
33751 63 N/H 96 rs753658469 0.7722 None gnomAD-2.1.1 2.85E-05
33751 63 N/H 96 rs753658469 0.7722 None gnomAD-3.1.2 4.6E-05
33751 63 N/H 96 rs753658469 0.7722 None gnomAD-4.0.0 2.78835E-05
33751 63 N/S 96 rs1475672598 0.7722 None gnomAD-2.1.1 3.18E-05
33751 63 N/S 96 rs1475672598 0.7722 None gnomAD-4.0.0 1.59107E-06
33753 65 F/C 98 None 0.8652 None gnomAD-4.0.0 1.36835E-06
33753 65 F/S 98 rs764462637 0.8652 None gnomAD-2.1.1 2.41E-05
33753 65 F/S 98 rs764462637 0.8652 None gnomAD-4.0.0 9.57847E-06
33754 66 G/E 99 rs760939553 0.2468 None gnomAD-2.1.1 8.04E-06
33754 66 G/E 99 rs760939553 0.2468 None gnomAD-3.1.2 6.57E-06
33754 66 G/E 99 rs760939553 0.2468 None gnomAD-4.0.0 1.859E-06
33755 67 K/E 100 None 0.6090 None gnomAD-4.0.0 1.59111E-06
33757 69 S/N 103 rs1210718667 0.1930 None gnomAD-2.1.1 3.19E-05
33757 69 S/N 103 rs1210718667 0.1930 None gnomAD-3.1.2 6.57E-06
33757 69 S/N 103 rs1210718667 0.1930 None gnomAD-4.0.0 6.57099E-06
33758 70 Y/H 104 None 0.1026 None gnomAD-4.0.0 1.20032E-06
33760 72 F/I 106 None 0.1137 None gnomAD-4.0.0 1.59109E-06
33760 72 F/L 106 None 0.1137 None gnomAD-4.0.0 6.84183E-07
33761 73 R/Q 107 rs774790424 0.1371 None gnomAD-2.1.1 2.14E-05
33761 73 R/Q 107 rs774790424 0.1371 None gnomAD-3.1.2 1.97E-05
33761 73 R/Q 107 rs774790424 0.1371 None gnomAD-4.0.0 1.23935E-05
33761 73 R/W 107 rs201421156 0.1371 None gnomAD-2.1.1 9.27E-05
33761 73 R/W 107 rs201421156 0.1371 None gnomAD-3.1.2 1.70915E-04
33761 73 R/W 107 rs201421156 0.1371 None gnomAD-4.0.0 1.92103E-04
33762 74 V/I 108 rs1385559568 0.0830 None gnomAD-3.1.2 6.57E-06
33762 74 V/I 108 rs1385559568 0.0830 None gnomAD-4.0.0 2.47863E-06
33762 74 V/L 108 rs1385559568 0.0830 None gnomAD-4.0.0 1.36837E-06
33763 75 I/T 109 rs1180167121 0.1284 None gnomAD-2.1.1 4.02E-06
33763 75 I/T 109 rs1180167121 0.1284 None gnomAD-4.0.0 6.8418E-06
33764 76 A/D 110 None 0.0743 None gnomAD-2.1.1 7.13E-06
33764 76 A/D 110 None 0.0743 None gnomAD-3.1.2 1.97E-05
33764 76 A/D 110 None 0.0743 None gnomAD-4.0.0 1.97179E-05
33764 76 A/G 110 rs773542514 0.0743 None gnomAD-2.1.1 1.21E-05
33764 76 A/G 110 rs773542514 0.0743 None gnomAD-3.1.2 1.31E-05
33764 76 A/G 110 rs773542514 0.0743 None gnomAD-4.0.0 9.91498E-06
33764 76 A/V 110 rs773542514 0.0743 None gnomAD-2.1.1 4.64E-05
33764 76 A/V 110 rs773542514 0.0743 None gnomAD-3.1.2 6.57E-05
33764 76 A/V 110 rs773542514 0.0743 None gnomAD-4.0.0 9.85301E-05
33765 77 E/D 111 None 0.2438 None gnomAD-4.0.0 2.40064E-06
33768 80 F/S 114 None 0.2035 None gnomAD-4.0.0 2.40064E-06
33769 81 G/A 115 rs1553499045 0.2067 None gnomAD-3.1.2 6.57E-06
33769 81 G/A 115 rs1553499045 0.2067 None gnomAD-4.0.0 6.57315E-06
33769 81 G/C 115 rs1690932780 0.2067 None gnomAD-3.1.2 6.57E-06
33769 81 G/C 115 rs1690932780 0.2067 None gnomAD-4.0.0 6.57246E-06
33769 81 G/S 115 rs1690932780 0.2067 None gnomAD-4.0.0 1.20032E-06
33771 83 S/C 118 None 0.0919 None gnomAD-4.0.0 2.73672E-06
33771 83 S/R 118 None 0.0919 None gnomAD-4.0.0 7.20193E-06
33772 84 K/E 119 rs1362410602 0.8512 None gnomAD-3.1.2 6.57E-06
33772 84 K/E 119 rs1362410602 0.8512 None gnomAD-4.0.0 2.56176E-06
33772 84 K/N 119 rs1255240121 0.8512 None gnomAD-4.0.0 3.18225E-06
33773 85 P/S 120 rs768248494 0.3099 None gnomAD-2.1.1 4.02E-06
33773 85 P/S 120 rs768248494 0.3099 None gnomAD-4.0.0 1.59118E-06
33775 87 E/G 122 None 0.7304 None gnomAD-4.0.0 1.59109E-06
33776 88 P/A 123 rs746665837 0.3516 None gnomAD-2.1.1 8.03E-06
33776 88 P/A 123 rs746665837 0.3516 None gnomAD-3.1.2 6.57E-06
33776 88 P/A 123 rs746665837 0.3516 None gnomAD-4.0.0 5.57713E-06
33776 88 P/L 123 rs536357517 0.3516 None gnomAD-2.1.1 8.03E-06
33776 88 P/L 123 rs536357517 0.3516 None gnomAD-3.1.2 2.63E-05
33776 88 P/L 123 rs536357517 0.3516 None 1000 genomes 1.99681E-04
33776 88 P/L 123 rs536357517 0.3516 None gnomAD-4.0.0 3.71775E-06
33777 89 S/L 124 rs983842520 0.1274 None gnomAD-3.1.2 1.31E-05
33777 89 S/L 124 rs983842520 0.1274 None gnomAD-4.0.0 4.05978E-06
33778 90 E/K 125 None 0.7084 None gnomAD-4.0.0 1.20032E-06
33779 91 P/S 126 rs1690922403 0.4268 None gnomAD-3.1.2 6.57E-06
33779 91 P/S 126 rs1690922403 0.4268 None gnomAD-4.0.0 3.84316E-06
33780 92 T/I 127 rs2154136558 0.2534 None gnomAD-4.0.0 1.36835E-06
33781 93 I/V 128 rs1029128193 0.6070 None gnomAD-4.0.0 4.77324E-06
33782 94 T/I 130 rs771566432 0.1031 None gnomAD-2.1.1 3.18E-05
33782 94 T/I 130 rs771566432 0.1031 None gnomAD-3.1.2 1.97E-05
33782 94 T/I 130 rs771566432 0.1031 None gnomAD-4.0.0 4.33779E-06
33782 94 T/S 130 rs771566432 0.1031 None gnomAD-4.0.0 6.84174E-07
33783 95 K/R 131 None 0.4425 None gnomAD-4.0.0 1.59107E-06
33784 96 E/Q 132 rs918368881 0.6902 None gnomAD-2.1.1 3.18E-05
33784 96 E/Q 132 rs918368881 0.6902 None gnomAD-3.1.2 1.31E-05
33784 96 E/Q 132 rs918368881 0.6902 None gnomAD-4.0.0 1.31453E-05