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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5637 1 P/A 1 None 0.1083 None gnomAD-4.0.0 2.40064E-05
5637 1 P/L 1 rs749185334 0.1083 None gnomAD-2.1.1 4.08E-06
5637 1 P/L 1 rs749185334 0.1083 None gnomAD-4.0.0 2.75277E-06
5638 2 Y/N 2 rs777950405 0.3886 None gnomAD-2.1.1 4.07E-06
5638 2 Y/N 2 rs777950405 0.3886 None gnomAD-4.0.0 1.61146E-06
5640 4 T/S 4 rs2080609627 0.4764 None gnomAD-4.0.0 5.50119E-06
5641 5 K/T 5 None 0.4936 None gnomAD-4.0.0 1.60697E-06
5642 6 E/D 7 rs2080608666 0.6201 None gnomAD-4.0.0 6.86864E-07
5642 6 E/K 7 rs1448901680 0.6201 None gnomAD-2.1.1 4.05E-06
5643 7 F/L 8 None 0.1714 None gnomAD-4.0.0 6.86816E-07
5643 7 F/V 8 None 0.1714 None gnomAD-4.0.0 6.86816E-07
5644 8 K/R 9 None 0.8954 None gnomAD-4.0.0 1.20032E-06
5645 9 P/L 11 rs370889765 0.6399 None gnomAD-2.1.1 1.47202E-04
5645 9 P/L 11 rs370889765 0.6399 None gnomAD-3.1.2 8.55E-05
5645 9 P/L 11 rs370889765 0.6399 None gnomAD-4.0.0 1.00039E-04
5645 9 P/T 11 None 0.6399 None gnomAD-4.0.0 1.20032E-06
5646 10 I/V 13 rs753025325 0.3265 None gnomAD-2.1.1 4.04E-06
5646 10 I/V 13 rs753025325 0.3265 None gnomAD-4.0.0 2.05815E-06
5648 12 V/I 16 None 0.1248 None gnomAD-4.0.0 6.85476E-07
5648 12 V/L 16 rs1451261949 0.1248 None gnomAD-2.1.1 4.04E-06
5648 12 V/L 16 rs1451261949 0.1248 None gnomAD-4.0.0 6.85476E-07
5650 14 K/R 23 rs1429494735 0.5617 None gnomAD-3.1.2 6.57E-06
5650 14 K/R 23 rs1429494735 0.5617 None gnomAD-4.0.0 5.13398E-06
5651 15 E/A 24 None 0.3588 None gnomAD-4.0.0 1.59197E-06
5651 15 E/G 24 rs1180270942 0.3588 None gnomAD-2.1.1 6.37E-05
5651 15 E/G 24 rs1180270942 0.3588 None gnomAD-3.1.2 6.57E-06
5651 15 E/G 24 rs1180270942 0.3588 None gnomAD-4.0.0 2.56306E-06
5651 15 E/K 24 rs368458199 0.3588 None gnomAD-2.1.1 4.04E-06
5651 15 E/K 24 rs368458199 0.3588 None gnomAD-3.1.2 1.31E-05
5651 15 E/K 24 rs368458199 0.3588 None gnomAD-4.0.0 4.05986E-06
5653 17 D/N 26 rs267599067 0.4810 None gnomAD-2.1.1 4.03E-06
5653 17 D/N 26 rs267599067 0.4810 None gnomAD-3.1.2 6.57E-06
5653 17 D/N 26 rs267599067 0.4810 None gnomAD-4.0.0 9.91669E-06
5654 18 V/A 28 None 0.1516 None gnomAD-4.0.0 1.59161E-06
5654 18 V/G 28 rs763581306 0.1516 None gnomAD-2.1.1 4.03E-05
5654 18 V/G 28 rs763581306 0.1516 None gnomAD-4.0.0 3.02406E-05
5655 19 M/I 29 rs750859083 0.5142 None gnomAD-2.1.1 4.03E-06
5655 19 M/I 29 rs750859083 0.5142 None gnomAD-4.0.0 1.5916E-06
5655 19 M/R 29 None 0.5142 None gnomAD-4.0.0 1.59163E-06
5655 19 M/V 29 rs2080601989 0.5142 None gnomAD-3.1.2 6.57E-06
5655 19 M/V 29 rs2080601989 0.5142 None gnomAD-4.0.0 2.56251E-06
5658 22 A/S 33 None 0.0736 None gnomAD-4.0.0 1.20032E-06
5658 22 A/V 33 None 0.0736 None gnomAD-4.0.0 2.40064E-06
5659 23 E/D 34 None 0.2947 None gnomAD-4.0.0 1.20032E-06
5659 23 E/K 34 rs763708860 0.2947 None gnomAD-2.1.1 4.03E-06
5659 23 E/K 34 rs763708860 0.2947 None gnomAD-3.1.2 1.31E-05
5659 23 E/K 34 rs763708860 0.2947 None gnomAD-4.0.0 3.09866E-06
5660 24 V/L 35 None 0.1195 None gnomAD-4.0.0 1.20032E-06
5661 25 A/T 38 None 0.1586 None gnomAD-4.0.0 1.20032E-06
5661 25 A/V 38 rs1231169310 0.1586 None gnomAD-2.1.1 8.05E-06
5661 25 A/V 38 rs1231169310 0.1586 None gnomAD-4.0.0 3.18296E-06
5662 26 G/D 40 rs760089168 0.1705 None gnomAD-2.1.1 2.14E-05
5662 26 G/D 40 rs760089168 0.1705 None gnomAD-3.1.2 3.29E-05
5662 26 G/D 40 rs760089168 0.1705 None gnomAD-4.0.0 2.47895E-05
5663 27 T/I 41 rs1370225459 0.2460 None gnomAD-2.1.1 4.03E-06
5663 27 T/I 41 rs1370225459 0.2460 None gnomAD-4.0.0 6.15816E-06
5663 27 T/P 41 rs1385425356 0.2460 None gnomAD-2.1.1 4.03E-06
5663 27 T/P 41 rs1385425356 0.2460 None gnomAD-4.0.0 1.59144E-06
5663 27 T/S 41 None 0.2460 None gnomAD-4.0.0 1.36848E-06
5664 28 P/L 42 None 0.4504 None gnomAD-4.0.0 1.59139E-06
5664 28 P/S 42 None 0.4504 None gnomAD-4.0.0 6.84239E-07
5664 28 P/T 42 None 0.4504 None gnomAD-4.0.0 2.05272E-06
5665 29 P/L 43 rs771714891 0.7484 None gnomAD-2.1.1 4.02E-06
5665 29 P/L 43 rs771714891 0.7484 None gnomAD-4.0.0 1.36847E-06
5665 29 P/S 43 rs775278050 0.7484 None gnomAD-2.1.1 1.21E-05
5665 29 P/S 43 rs775278050 0.7484 None gnomAD-3.1.2 1.31E-05
5665 29 P/S 43 rs775278050 0.7484 None gnomAD-4.0.0 7.68705E-06
5666 30 F/L 44 None 0.2367 None gnomAD-4.0.0 3.18275E-06
5668 32 I/N 46 None 0.2390 None gnomAD-4.0.0 1.20032E-06
5669 33 T/I 47 rs2080592409 0.3647 None gnomAD-4.0.0 7.95684E-06
5670 34 W/C 48 rs759141317 0.1336 None gnomAD-2.1.1 4.02E-06
5670 34 W/C 48 rs759141317 0.1336 None gnomAD-4.0.0 1.59135E-06
5673 37 D/G 51 rs774163706 0.4133 None gnomAD-2.1.1 8.04E-06
5673 37 D/G 51 rs774163706 0.4133 None gnomAD-3.1.2 1.31E-05
5673 37 D/G 51 rs774163706 0.4133 None gnomAD-4.0.0 4.95754E-06
5673 37 D/V 51 rs774163706 0.4133 None gnomAD-2.1.1 4.02E-06
5673 37 D/V 51 rs774163706 0.4133 None gnomAD-3.1.2 6.57E-06
5673 37 D/V 51 rs774163706 0.4133 None gnomAD-4.0.0 1.67317E-05
5674 38 N/K 52 rs1373550135 0.8422 None gnomAD-2.1.1 8.04E-06
5674 38 N/K 52 rs1373550135 0.8422 None gnomAD-4.0.0 4.77403E-06
5675 39 T/A 55 rs1198124023 0.4844 None gnomAD-2.1.1 8.04E-06
5675 39 T/A 55 rs1198124023 0.4844 None gnomAD-3.1.2 1.31E-05
5675 39 T/A 55 rs1198124023 0.4844 None gnomAD-4.0.0 6.19715E-06
5676 40 I/N 56 None 0.5753 None gnomAD-4.0.0 1.59132E-06
5677 41 L/M 58 rs770682637 0.1544 None gnomAD-2.1.1 8.04E-06
5677 41 L/M 58 rs770682637 0.1544 None gnomAD-4.0.0 3.18263E-06
5677 41 L/P 58 rs1269227302 0.1544 None gnomAD-2.1.1 4.02E-06
5677 41 L/P 58 rs1269227302 0.1544 None gnomAD-4.0.0 3.42106E-06
5678 42 R/P 59 None 0.8806 None gnomAD-4.0.0 6.8421E-07
5678 42 R/Q 59 rs374742663 0.8806 None gnomAD-2.1.1 8.04E-06
5678 42 R/Q 59 rs374742663 0.8806 None gnomAD-3.1.2 1.97E-05
5678 42 R/Q 59 rs374742663 0.8806 None 1000 genomes 1.99681E-04
5678 42 R/Q 59 rs374742663 0.8806 None gnomAD-4.0.0 6.19668E-06
5680 44 G/D 73 None 0.3597 None gnomAD-4.0.0 6.84208E-07
5680 44 G/R 73 rs769986653 0.3597 None gnomAD-2.1.1 1.61E-05
5680 44 G/R 73 rs769986653 0.3597 None gnomAD-4.0.0 3.42107E-06
5680 44 G/S 73 rs769986653 0.3597 None gnomAD-4.0.0 3.42107E-06
5680 44 G/V 73 None 0.3597 None gnomAD-4.0.0 6.84208E-07
5681 45 R/G 102 rs2080582630 1.0344 None gnomAD-3.1.2 6.57E-06
5681 45 R/G 102 rs2080582630 1.0344 None gnomAD-4.0.0 5.12417E-06
5681 45 R/S 102 None 1.0344 None gnomAD-4.0.0 1.59125E-06
5683 47 Y/C 121 rs72648942 0.1957 None gnomAD-2.1.1 5.44899E-03
5683 47 Y/C 121 rs72648942 0.1957 None gnomAD-3.1.2 4.69132E-03
5683 47 Y/C 121 rs72648942 0.1957 None 1000 genomes 1.99681E-03
5683 47 Y/C 121 rs72648942 0.1957 None gnomAD-4.0.0 6.7162E-03
5683 47 Y/D 121 rs371062603 0.1957 None gnomAD-2.1.1 4.02E-06
5683 47 Y/D 121 rs371062603 0.1957 None gnomAD-3.1.2 1.31E-05
5683 47 Y/D 121 rs371062603 0.1957 None gnomAD-4.0.0 1.31451E-05
5685 49 T/S 123 rs755271632 0.2627 None gnomAD-2.1.1 4.02E-06
5685 49 T/S 123 rs755271632 0.2627 None gnomAD-4.0.0 1.59125E-06
5686 50 F/V 125 None 0.5450 None gnomAD-4.0.0 1.59124E-06
5687 51 I/V 127 None 0.5282 None gnomAD-4.0.0 1.20032E-06
5688 52 Q/H 130 rs1314251790 0.7036 None gnomAD-2.1.1 4.02E-06
5688 52 Q/H 130 rs1314251790 0.7036 None gnomAD-4.0.0 3.1825E-06
5688 52 Q/L 130 None 0.7036 None gnomAD-4.0.0 6.84205E-07
5688 52 Q/R 130 None 0.7036 None gnomAD-4.0.0 1.36841E-06
5690 54 H/Y 134 None 0.6172 None gnomAD-4.0.0 1.3684E-06
5691 55 L/P 135 None 0.3851 None gnomAD-4.0.0 1.59122E-06
5692 56 V/A 136 rs570039271 0.1195 None gnomAD-2.1.1 8.04E-05
5692 56 V/A 136 rs570039271 0.1195 None gnomAD-3.1.2 6.57E-06
5692 56 V/A 136 rs570039271 0.1195 None 1000 genomes 1.99681E-04
5692 56 V/A 136 rs570039271 0.1195 None gnomAD-4.0.0 2.23075E-05
5693 57 S/I 137 rs1560804311 0.1512 None gnomAD-2.1.1 8.04E-06
5693 57 S/I 137 rs1560804311 0.1512 None gnomAD-4.0.0 3.18242E-06
5693 57 S/R 137 rs372588069 0.1512 None gnomAD-2.1.1 4.02E-06
5693 57 S/R 137 rs372588069 0.1512 None gnomAD-4.0.0 1.3684E-06
5695 59 Q/K 139 None 0.2993 None gnomAD-4.0.0 1.59124E-06
5696 60 I/F 140 None 0.0699 None gnomAD-4.0.0 1.20032E-06
5698 62 K/R 143 None 0.6921 None gnomAD-4.0.0 3.18256E-06
5699 63 F/S 144 rs929174376 0.0836 None gnomAD-3.1.2 6.57E-06
5699 63 F/S 144 rs929174376 0.0836 None gnomAD-4.0.0 6.57419E-06
5701 65 A/D 146 rs757714302 0.5458 None gnomAD-2.1.1 4.02E-06
5701 65 A/D 146 rs757714302 0.5458 None gnomAD-4.0.0 1.36844E-06
5702 66 A/T 148 rs2080567900 0.5232 None gnomAD-3.1.2 6.57E-06
5702 66 A/T 148 rs2080567900 0.5232 None gnomAD-4.0.0 6.57203E-06
5703 67 D/V 149 None 0.1107 None gnomAD-4.0.0 1.20032E-06
5705 69 G/S 152 None 0.1790 None gnomAD-4.0.0 2.05266E-06
5706 70 E/A 153 None 0.4101 None gnomAD-4.0.0 6.84234E-07
5706 70 E/G 153 rs1176874608 0.4101 None gnomAD-4.0.0 6.84234E-07
5706 70 E/K 153 rs376593556 0.4101 None gnomAD-2.1.1 4.65E-05
5706 70 E/K 153 rs376593556 0.4101 None gnomAD-3.1.2 1.77459E-04
5706 70 E/K 153 rs376593556 0.4101 None gnomAD-4.0.0 4.02818E-05
5706 70 E/Q 153 rs376593556 0.4101 None gnomAD-4.0.0 6.84237E-07
5707 71 Y/H 154 rs533492533 0.1050 None gnomAD-2.1.1 4.03E-06
5707 71 Y/H 154 rs533492533 0.1050 None gnomAD-3.1.2 6.57E-06
5707 71 Y/H 154 rs533492533 0.1050 None 1000 genomes 1.99681E-04
5707 71 Y/H 154 rs533492533 0.1050 None gnomAD-4.0.0 3.09832E-06
5708 72 Q/H 155 rs373282814 0.2724 None gnomAD-2.1.1 1.07E-05
5708 72 Q/H 155 rs373282814 0.2724 None gnomAD-3.1.2 5.91E-05
5708 72 Q/H 155 rs373282814 0.2724 None gnomAD-4.0.0 6.84231E-07
5710 74 R/L 157 None 0.3816 None gnomAD-4.0.0 6.84264E-07
5710 74 R/Q 157 rs200018866 0.3816 None gnomAD-2.1.1 6.44E-05
5710 74 R/Q 157 rs200018866 0.3816 None gnomAD-3.1.2 1.97244E-04
5710 74 R/Q 157 rs200018866 0.3816 None 1000 genomes None
5710 74 R/Q 157 rs200018866 0.3816 None gnomAD-4.0.0 5.51589E-05
5710 74 R/W 157 rs1183941490 0.3816 None gnomAD-2.1.1 7.15E-06
5710 74 R/W 157 rs1183941490 0.3816 None gnomAD-3.1.2 1.31E-05
5710 74 R/W 157 rs1183941490 0.3816 None gnomAD-4.0.0 8.67657E-06
5711 75 V/L 158 None 0.0893 None gnomAD-4.0.0 6.84258E-07
5713 77 N/S 161 rs374597389 0.1450 None gnomAD-3.1.2 6.57E-06
5713 77 N/S 161 rs374597389 0.1450 None gnomAD-4.0.0 2.0299E-06
5714 78 E/G 162 rs772995909 0.6760 None gnomAD-2.1.1 4.03E-06
5714 78 E/G 162 rs772995909 0.6760 None gnomAD-4.0.0 1.36862E-06
5715 79 V/A 163 rs1279938466 0.2364 None gnomAD-4.0.0 6.84394E-07
5715 79 V/E 163 None 0.2364 None gnomAD-4.0.0 4.10637E-06
5715 79 V/M 163 None 0.2364 None gnomAD-4.0.0 2.05297E-06
5716 80 G/A 164 None 0.2117 None gnomAD-4.0.0 6.84536E-07
5716 80 G/D 164 rs952474808 0.2117 None gnomAD-4.0.0 6.16082E-06
5717 81 S/N 165 rs1484523576 0.3792 None gnomAD-2.1.1 4.03E-06
5717 81 S/N 165 rs1484523576 0.3792 None gnomAD-4.0.0 9.5843E-06
5718 82 S/N 166 None 0.1821 None gnomAD-4.0.0 6.8467E-07
5719 83 I/M 168 None 0.3878 None gnomAD-4.0.0 1.20032E-06
5719 83 I/T 168 rs769635185 0.3878 None gnomAD-2.1.1 4.04E-06
5719 83 I/T 168 rs769635185 0.3878 None gnomAD-4.0.0 8.21832E-06
5720 84 C/G 169 rs748067586 0.0677 None gnomAD-2.1.1 1.61E-05
5720 84 C/G 169 rs748067586 0.0677 None gnomAD-4.0.0 4.7942E-06
5721 85 S/G 171 None 0.3063 None gnomAD-4.0.0 1.20032E-06
5722 86 A/P 172 rs541256724 0.1371 None gnomAD-2.1.1 4.04E-06
5722 86 A/P 172 rs541256724 0.1371 None gnomAD-4.0.0 1.59664E-06
5722 86 A/T 172 rs541256724 0.1371 None gnomAD-3.1.2 1.31E-05
5722 86 A/T 172 rs541256724 0.1371 None 1000 genomes 1.99681E-04
5722 86 A/T 172 rs541256724 0.1371 None gnomAD-4.0.0 6.56556E-06
5723 87 R/T 173 rs2080550527 0.6425 None gnomAD-3.1.2 6.57E-06
5723 87 R/T 173 rs2080550527 0.6425 None gnomAD-4.0.0 6.57056E-06
5725 89 T/I 175 None 0.3597 None gnomAD-4.0.0 1.60281E-06
5725 89 T/N 175 rs776879170 0.3597 None gnomAD-2.1.1 1.62E-05
5725 89 T/N 175 rs776879170 0.3597 None gnomAD-3.1.2 6.57E-06
5725 89 T/N 175 rs776879170 0.3597 None gnomAD-4.0.0 1.54628E-05
5725 89 T/S 175 rs781556763 0.3597 None gnomAD-2.1.1 4.06E-06
5725 89 T/S 175 rs781556763 0.3597 None gnomAD-4.0.0 3.20556E-06
5726 90 L/I 177 None 0.4078 None gnomAD-4.0.0 1.60296E-06