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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20668 1 R/I 1 None 0.7043 None gnomAD-4.0.0 6.84296E-07
20668 1 R/K 1 rs1407338047 0.7043 None gnomAD-2.1.1 8.05E-06
20668 1 R/K 1 rs1407338047 0.7043 None gnomAD-4.0.0 6.84296E-06
20668 1 R/S 1 None 0.7043 None gnomAD-4.0.0 1.59174E-06
20669 2 P/R 2 rs1025235862 0.1190 None gnomAD-3.1.2 6.58E-06
20669 2 P/R 2 rs1025235862 0.1190 None gnomAD-4.0.0 3.09905E-06
20669 2 P/S 2 rs1553641246 0.1190 None gnomAD-4.0.0 3.18347E-06
20670 3 G/D 3 rs1307936736 0.2096 None gnomAD-3.1.2 6.58E-06
20670 3 G/D 3 rs1307936736 0.2096 None gnomAD-4.0.0 1.85944E-06
20670 3 G/S 3 rs774150150 0.2096 None gnomAD-2.1.1 4.03E-06
20670 3 G/S 3 rs774150150 0.2096 None gnomAD-4.0.0 2.0529E-06
20670 3 G/V 3 rs1307936736 0.2096 None gnomAD-2.1.1 7.15E-06
20670 3 G/V 3 rs1307936736 0.2096 None gnomAD-3.1.2 6.58E-06
20670 3 G/V 3 rs1307936736 0.2096 None gnomAD-4.0.0 4.3387E-06
20671 4 E/G 4 None 0.5693 None gnomAD-4.0.0 1.20032E-06
20671 4 E/K 4 rs770684884 0.5693 None gnomAD-2.1.1 1.77186E-04
20671 4 E/K 4 rs770684884 0.5693 None gnomAD-3.1.2 1.97E-05
20671 4 E/K 4 rs770684884 0.5693 None gnomAD-4.0.0 3.47089E-05
20672 5 P/A 5 rs1356638813 0.1299 None gnomAD-2.1.1 4.03E-06
20672 5 P/A 5 rs1356638813 0.1299 None gnomAD-4.0.0 1.36861E-06
20673 6 E/A 6 rs2049807287 0.3417 None gnomAD-4.0.0 1.59178E-06
20673 6 E/K 6 rs2049807795 0.3417 None gnomAD-4.0.0 1.36862E-06
20674 7 N/K 7 rs1171410396 0.5980 None gnomAD-2.1.1 4.03E-06
20674 7 N/K 7 rs1171410396 0.5980 None gnomAD-4.0.0 1.59179E-06
20675 8 L/H 9 rs1432751152 0.1869 None gnomAD-2.1.1 4.03E-06
20675 8 L/H 9 rs1432751152 0.1869 None gnomAD-4.0.0 2.40064E-06
20675 8 L/I 9 None 0.1869 None gnomAD-4.0.0 2.40064E-06
20677 10 I/N 12 None 0.2903 None gnomAD-4.0.0 2.05293E-06
20677 10 I/T 12 rs558670891 0.2903 None gnomAD-2.1.1 4.84E-05
20677 10 I/T 12 rs558670891 0.2903 None gnomAD-3.1.2 3.95E-05
20677 10 I/T 12 rs558670891 0.2903 None 1000 genomes 1.99681E-04
20677 10 I/T 12 rs558670891 0.2903 None gnomAD-4.0.0 3.59465E-05
20678 11 A/V 13 None 0.3089 None gnomAD-4.0.0 1.5918E-06
20679 12 D/E 14 rs878956804 0.5646 None gnomAD-2.1.1 4.03E-06
20679 12 D/E 14 rs878956804 0.5646 None gnomAD-4.0.0 4.10583E-06
20679 12 D/Y 14 None 0.5646 None gnomAD-4.0.0 4.77537E-06
20681 14 G/E 16 rs1031977069 0.1274 None gnomAD-3.1.2 6.58E-06
20681 14 G/E 16 rs1031977069 0.1274 None gnomAD-4.0.0 6.5767E-06
20681 14 G/R 16 rs778208423 0.1274 None gnomAD-2.1.1 4.03E-06
20681 14 G/R 16 rs778208423 0.1274 None gnomAD-4.0.0 1.5918E-06
20682 15 K/E 17 rs2049804283 0.4959 None gnomAD-3.1.2 6.57E-06
20682 15 K/E 17 rs2049804283 0.4959 None gnomAD-4.0.0 2.02977E-06
20682 15 K/M 17 None 0.4959 None gnomAD-4.0.0 4.79022E-06
20682 15 K/N 17 rs756250387 0.4959 None gnomAD-2.1.1 4.03E-06
20682 15 K/N 17 rs756250387 0.4959 None gnomAD-3.1.2 6.58E-06
20682 15 K/N 17 rs756250387 0.4959 None gnomAD-4.0.0 1.85944E-06
20683 16 T/I 18 rs1204341026 0.4455 None gnomAD-2.1.1 8.06E-06
20683 16 T/I 18 rs1204341026 0.4455 None gnomAD-4.0.0 4.79022E-06
20683 16 T/P 18 None 0.4455 None gnomAD-4.0.0 1.59183E-06
20683 16 T/R 18 None 0.4455 None gnomAD-4.0.0 6.84317E-07
20684 17 F/V 19 rs2049802658 0.2743 None gnomAD-3.1.2 6.58E-06
20684 17 F/V 19 rs2049802658 0.2743 None gnomAD-4.0.0 6.57696E-06
20685 18 V/F 20 rs748181916 0.1026 None gnomAD-2.1.1 4.03E-06
20685 18 V/F 20 rs748181916 0.1026 None gnomAD-4.0.0 4.1059E-06
20685 18 V/I 20 rs748181916 0.1026 None gnomAD-2.1.1 4.03E-06
20686 19 Y/C 21 rs755470129 0.2467 None gnomAD-2.1.1 4.03E-06
20686 19 Y/C 21 rs755470129 0.2467 None gnomAD-3.1.2 6.57E-06
20686 19 Y/C 21 rs755470129 0.2467 None gnomAD-4.0.0 5.57827E-06
20686 19 Y/H 21 rs781138196 0.2467 None gnomAD-2.1.1 4.03E-06
20687 20 L/V 22 rs76587526 0.0967 None gnomAD-2.1.1 1.21E-05
20687 20 L/V 22 rs76587526 0.0967 None gnomAD-4.0.0 2.25825E-05
20690 23 R/G 25 None 0.6908 None gnomAD-4.0.0 6.84331E-07
20690 23 R/L 25 None 0.6908 None gnomAD-4.0.0 6.84324E-07
20690 23 R/Q 25 rs753480368 0.6908 None gnomAD-2.1.1 8.07E-06
20690 23 R/Q 25 rs753480368 0.6908 None gnomAD-4.0.0 1.36865E-05
20690 23 R/W 25 rs758801935 0.6908 None gnomAD-2.1.1 8.07E-06
20690 23 R/W 25 rs758801935 0.6908 None gnomAD-4.0.0 6.15898E-06
20691 24 R/S 26 None 0.6965 None gnomAD-4.0.0 1.20032E-06
20692 25 P/T 27 None 0.1580 None gnomAD-4.0.0 1.59189E-06
20694 27 Y/S 29 None 0.6256 None gnomAD-4.0.0 1.20032E-06
20695 28 D/E 30 None 0.3051 None gnomAD-4.0.0 6.84338E-07
20695 28 D/N 30 None 0.3051 None gnomAD-4.0.0 4.79037E-06
20696 29 G/D 31 rs763791044 0.2559 None gnomAD-2.1.1 1.61E-05
20696 29 G/D 31 rs763791044 0.2559 None gnomAD-4.0.0 8.89658E-06
20697 30 G/S 32 rs889345827 0.5843 None gnomAD-3.1.2 6.58E-06
20697 30 G/S 32 rs889345827 0.5843 None gnomAD-4.0.0 6.57505E-06
20699 32 P/L 34 rs1553641061 0.6706 None gnomAD-4.0.0 3.18458E-06
20699 32 P/Q 34 None 0.6706 None gnomAD-4.0.0 1.59229E-06
20699 32 P/S 34 rs760330778 0.6706 None gnomAD-2.1.1 8.07E-06
20699 32 P/S 34 rs760330778 0.6706 None gnomAD-4.0.0 3.18446E-06
20700 33 N/D 35 rs151193056 0.3328 None gnomAD-2.1.1 8.24E-05
20700 33 N/D 35 rs151193056 0.3328 None gnomAD-3.1.2 2.23558E-04
20700 33 N/D 35 rs151193056 0.3328 None 1000 genomes 5.99042E-04
20700 33 N/D 35 rs151193056 0.3328 None gnomAD-4.0.0 3.59496E-05
20700 33 N/K 35 rs997630345 0.3328 None gnomAD-2.1.1 4.04E-06
20700 33 N/K 35 rs997630345 0.3328 None gnomAD-4.0.0 3.18449E-06
20701 34 L/Q 36 rs1383995916 0.4619 None gnomAD-3.1.2 6.58E-06
20701 34 L/Q 36 rs1383995916 0.4619 None gnomAD-4.0.0 6.57549E-06
20702 35 S/T 37 None 0.1697 None gnomAD-4.0.0 6.84416E-07
20703 36 Y/C 38 None 0.1084 None gnomAD-3.1.2 6.58E-06
20703 36 Y/C 38 None 0.1084 None gnomAD-4.0.0 6.57566E-06
20703 36 Y/H 38 rs774199758 0.1084 None gnomAD-2.1.1 1.21E-05
20703 36 Y/H 38 rs774199758 0.1084 None gnomAD-3.1.2 6.58E-06
20703 36 Y/H 38 rs774199758 0.1084 None gnomAD-4.0.0 1.42574E-05
20704 37 H/D 39 rs1553641034 0.2327 None gnomAD-4.0.0 4.79085E-06
20704 37 H/R 39 rs770845631 0.2327 None gnomAD-2.1.1 4.04E-06
20704 37 H/R 39 rs770845631 0.2327 None gnomAD-4.0.0 1.59231E-06
20705 38 V/I 40 rs1318869377 0.0905 None gnomAD-3.1.2 6.58E-06
20705 38 V/I 40 rs1318869377 0.0905 None gnomAD-4.0.0 2.56411E-06
20706 39 E/K 41 rs773156172 0.0701 None gnomAD-2.1.1 4.04E-06
20706 39 E/K 41 rs773156172 0.0701 None gnomAD-4.0.0 1.59244E-06
20708 41 R/S 43 rs377175428 0.2587 None gnomAD-2.1.1 8.08E-06
20708 41 R/S 43 rs377175428 0.2587 None gnomAD-4.0.0 4.10639E-06
20709 42 L/F 44 rs371705537 0.3426 None gnomAD-2.1.1 4.04E-06
20709 42 L/F 44 rs371705537 0.3426 None gnomAD-3.1.2 3.95E-05
20709 42 L/F 44 rs371705537 0.3426 None gnomAD-4.0.0 5.57906E-06
20710 43 K/Q 45 None 0.4922 None gnomAD-4.0.0 1.20032E-06
20713 46 D/N 63 rs1177521349 1.0456 None gnomAD-2.1.1 8.08E-06
20713 46 D/N 63 rs1177521349 1.0456 None gnomAD-3.1.2 3.29E-05
20713 46 D/N 63 rs1177521349 1.0456 None gnomAD-4.0.0 1.4257E-05
20714 47 D/E 64 None 0.8500 None gnomAD-4.0.0 1.20032E-06
20716 49 E/A 66 rs794729243 0.4182 None gnomAD-3.1.2 6.57E-06
20716 49 E/A 66 rs794729243 0.4182 None gnomAD-4.0.0 1.85953E-06
20716 49 E/K 66 None 0.4182 None gnomAD-4.0.0 5.47496E-06
20716 49 E/Q 66 rs548071435 0.4182 None gnomAD-2.1.1 8.08E-06
20716 49 E/Q 66 rs548071435 0.4182 None gnomAD-3.1.2 6.57E-06
20716 49 E/Q 66 rs548071435 0.4182 None 1000 genomes 1.99681E-04
20716 49 E/Q 66 rs548071435 0.4182 None gnomAD-4.0.0 2.47921E-06
20717 50 R/G 67 rs75458912 0.2237 None gnomAD-2.1.1 2.57955E-04
20717 50 R/G 67 rs75458912 0.2237 None gnomAD-3.1.2 8.55E-05
20717 50 R/G 67 rs75458912 0.2237 None 1000 genomes 3.99361E-04
20717 50 R/G 67 rs75458912 0.2237 None gnomAD-4.0.0 1.03506E-04
20718 51 V/A 68 None 0.1762 None gnomAD-4.0.0 4.77631E-06
20718 51 V/E 68 rs976375342 0.1762 None gnomAD-2.1.1 8.07E-06
20718 51 V/E 68 rs976375342 0.1762 None gnomAD-3.1.2 6.58E-06
20718 51 V/E 68 rs976375342 0.1762 None gnomAD-4.0.0 1.02565E-05
20718 51 V/L 68 None 0.1762 None gnomAD-4.0.0 1.36875E-06
20718 51 V/M 68 rs2049781632 0.1762 None gnomAD-4.0.0 6.84375E-07
20719 52 H/P 69 rs1477967306 0.1727 None gnomAD-2.1.1 3.19E-05
20719 52 H/P 69 rs1477967306 0.1727 None gnomAD-3.1.2 6.58E-06
20719 52 H/P 69 rs1477967306 0.1727 None gnomAD-4.0.0 6.5786E-06
20721 54 G/A 72 rs1656930545 0.5543 None gnomAD-3.1.2 6.58E-06
20721 54 G/A 72 rs1656930545 0.5543 None gnomAD-4.0.0 6.58051E-06
20722 55 S/N 75 rs568728579 0.5965 None gnomAD-3.1.2 6.58E-06
20722 55 S/N 75 rs568728579 0.5965 None gnomAD-4.0.0 2.56401E-06
20722 55 S/R 75 rs750725073 0.5965 None gnomAD-2.1.1 4.04E-06
20722 55 S/R 75 rs750725073 0.5965 None gnomAD-4.0.0 2.05309E-06
20722 55 S/T 75 rs568728579 0.5965 None gnomAD-2.1.1 4.03E-06
20722 55 S/T 75 rs568728579 0.5965 None gnomAD-3.1.2 6.58E-06
20722 55 S/T 75 rs568728579 0.5965 None 1000 genomes 1.99681E-04
20722 55 S/T 75 rs568728579 0.5965 None gnomAD-4.0.0 6.57722E-06
20723 56 I/T 77 rs779251870 0.1019 None gnomAD-2.1.1 4.03E-06
20723 56 I/T 77 rs779251870 0.1019 None gnomAD-4.0.0 1.59205E-06
20723 56 I/V 77 None 0.1019 None gnomAD-4.0.0 1.20032E-06
20729 62 M/I 92 None 0.3741 None gnomAD-4.0.0 1.59214E-06
20729 62 M/V 92 None 0.3741 None gnomAD-4.0.0 1.59209E-06
20730 63 V/A 93 rs752344332 0.1064 None gnomAD-2.1.1 2.82E-05
20730 63 V/A 93 rs752344332 0.1064 None gnomAD-3.1.2 6.58E-06
20730 63 V/A 93 rs752344332 0.1064 None gnomAD-4.0.0 1.11583E-05
20730 63 V/I 93 rs1049072812 0.1064 None gnomAD-2.1.1 4.03E-06
20730 63 V/I 93 rs1049072812 0.1064 None gnomAD-4.0.0 4.10619E-06
20731 64 D/G 94 None 0.3953 None gnomAD-4.0.0 2.40064E-06
20732 65 R/S 96 None 0.5292 None gnomAD-4.0.0 6.36819E-06
20733 66 C/R 97 None 0.0900 None gnomAD-4.0.0 3.60097E-06
20733 66 C/S 97 None 0.0900 None gnomAD-4.0.0 1.59218E-06
20734 67 V/I 98 None 0.4996 None gnomAD-4.0.0 1.20032E-06
20735 68 E/G 99 rs767027188 0.3766 None gnomAD-2.1.1 4.03E-06
20735 68 E/G 99 rs767027188 0.3766 None gnomAD-4.0.0 1.59219E-06
20736 69 N/Y 100 None 0.6274 None gnomAD-4.0.0 1.20032E-06
20737 70 Q/P 102 None 0.3726 None gnomAD-4.0.0 1.5921E-06
20738 71 I/M 103 rs1388003753 0.2974 None gnomAD-2.1.1 1.61E-05
20738 71 I/M 103 rs1388003753 0.2974 None gnomAD-3.1.2 6.58E-06
20738 71 I/M 103 rs1388003753 0.2974 None gnomAD-4.0.0 6.81869E-06
20738 71 I/T 103 rs1455500759 0.2974 None gnomAD-3.1.2 6.58E-06
20738 71 I/T 103 rs1455500759 0.2974 None gnomAD-4.0.0 6.57938E-06
20739 72 Y/C 104 rs751502535 0.1144 None gnomAD-2.1.1 7.16E-06
20739 72 Y/C 104 rs751502535 0.1144 None gnomAD-3.1.2 1.97E-05
20739 72 Y/C 104 rs751502535 0.1144 None gnomAD-4.0.0 4.33895E-06
20739 72 Y/F 104 rs751502535 0.1144 None gnomAD-2.1.1 4.03E-06
20739 72 Y/F 104 rs751502535 0.1144 None gnomAD-4.0.0 1.36874E-06
20740 73 E/D 105 rs766362512 0.1579 None gnomAD-2.1.1 4.03E-06
20740 73 E/D 105 rs766362512 0.1579 None gnomAD-4.0.0 1.59209E-06
20740 73 E/K 105 rs1451572769 0.1579 None gnomAD-2.1.1 8.06E-06
20740 73 E/K 105 rs1451572769 0.1579 None gnomAD-3.1.2 6.58E-06
20740 73 E/K 105 rs1451572769 0.1579 None gnomAD-4.0.0 1.36367E-05
20740 73 E/V 105 rs559490402 0.1579 None gnomAD-2.1.1 4.03E-06
20740 73 E/V 105 rs559490402 0.1579 None gnomAD-3.1.2 6.57E-06
20740 73 E/V 105 rs559490402 0.1579 None gnomAD-4.0.0 4.33895E-06
20742 75 R/G 107 None 0.0821 None gnomAD-4.0.0 3.60097E-06
20743 76 V/A 108 rs762990827 0.0748 None gnomAD-3.1.2 6.58E-06
20743 76 V/A 108 rs762990827 0.0748 None gnomAD-4.0.0 1.85975E-06
20745 78 T/A 110 rs374085176 0.0862 None gnomAD-2.1.1 1.07E-05
20745 78 T/A 110 rs374085176 0.0862 None gnomAD-3.1.2 1.97E-05
20745 78 T/A 110 rs374085176 0.0862 None gnomAD-4.0.0 4.95877E-06
20747 80 N/K 112 rs2049763633 0.1121 None gnomAD-3.1.2 6.58E-06
20747 80 N/K 112 rs2049763633 0.1121 None gnomAD-4.0.0 6.57929E-06
20747 80 N/T 112 rs1211138085 0.1121 None gnomAD-2.1.1 3.19E-05
20747 80 N/T 112 rs1211138085 0.1121 None gnomAD-3.1.2 6.57E-06
20747 80 N/T 112 rs1211138085 0.1121 None gnomAD-4.0.0 6.57462E-06
20747 80 N/Y 112 rs2049764957 0.1121 None gnomAD-3.1.2 6.58E-06
20747 80 N/Y 112 rs2049764957 0.1121 None gnomAD-4.0.0 6.57661E-06
20748 81 E/K 113 rs774998817 0.7736 None gnomAD-4.0.0 1.5921E-06
20749 82 G/D 114 rs762072522 0.5005 None gnomAD-2.1.1 4.03E-05
20749 82 G/D 114 rs762072522 0.5005 None gnomAD-4.0.0 1.28154E-05
20749 82 G/S 114 rs769732478 0.5005 None gnomAD-2.1.1 4.03E-06
20749 82 G/S 114 rs769732478 0.5005 None gnomAD-4.0.0 7.52797E-06
20750 83 G/R 115 rs776757434 0.1790 None gnomAD-2.1.1 4.03E-06
20750 83 G/R 115 rs776757434 0.1790 None gnomAD-4.0.0 1.59213E-06
20751 84 E/K 116 rs926520394 0.3603 None gnomAD-4.0.0 3.18416E-06
20753 86 D/E 119 None 0.9431 None gnomAD-4.0.0 1.20032E-06
20753 86 D/N 119 rs879217628 0.9431 None gnomAD-4.0.0 1.59209E-06
20753 86 D/V 119 None 0.9431 None gnomAD-4.0.0 1.59207E-06
20758 91 E/K 124 rs794729470 0.8446 None gnomAD-4.0.0 7.5279E-06
20758 91 E/V 124 None 0.8446 None gnomAD-4.0.0 1.20032E-06
20759 92 E/K 125 rs562680371 0.5521 None gnomAD-2.1.1 5.08061E-04
20759 92 E/K 125 rs562680371 0.5521 None gnomAD-3.1.2 2.23608E-04
20759 92 E/K 125 rs562680371 0.5521 None 1000 genomes 1.19808E-03
20759 92 E/K 125 rs562680371 0.5521 None gnomAD-4.0.0 2.64661E-04
20760 93 V/I 126 None 0.1953 None gnomAD-4.0.0 2.40064E-06
20763 96 K/T 130 None 0.4980 None gnomAD-4.0.0 1.20032E-06
20764 97 E/Q 131 rs397517651 0.4276 None gnomAD-2.1.1 1.43E-05
20764 97 E/Q 131 rs397517651 0.4276 None gnomAD-3.1.2 6.58E-05
20764 97 E/Q 131 rs397517651 0.4276 None gnomAD-4.0.0 1.11574E-05
20765 98 D/A 132 None 0.7470 None gnomAD-4.0.0 1.20032E-06