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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20668 1 R/I 1 None 0.7500 None gnomAD-4.0.0 6.84296E-07
20668 1 R/K 1 rs1407338047 0.7500 None gnomAD-2.1.1 8.05E-06
20668 1 R/K 1 rs1407338047 0.7500 None gnomAD-4.0.0 6.84296E-06
20668 1 R/S 1 None 0.7500 None gnomAD-4.0.0 1.59174E-06
20669 2 P/R 2 rs1025235862 0.1769 None gnomAD-3.1.2 6.58E-06
20669 2 P/R 2 rs1025235862 0.1769 None gnomAD-4.0.0 3.09905E-06
20669 2 P/S 2 rs1553641246 0.1769 None gnomAD-4.0.0 3.18347E-06
20670 3 G/D 3 rs1307936736 0.2615 None gnomAD-3.1.2 6.58E-06
20670 3 G/D 3 rs1307936736 0.2615 None gnomAD-4.0.0 1.85944E-06
20670 3 G/S 3 rs774150150 0.2615 None gnomAD-2.1.1 4.03E-06
20670 3 G/S 3 rs774150150 0.2615 None gnomAD-4.0.0 2.0529E-06
20670 3 G/V 3 rs1307936736 0.2615 None gnomAD-2.1.1 7.15E-06
20670 3 G/V 3 rs1307936736 0.2615 None gnomAD-3.1.2 6.58E-06
20670 3 G/V 3 rs1307936736 0.2615 None gnomAD-4.0.0 4.3387E-06
20671 4 E/G 4 None 0.5322 None gnomAD-4.0.0 1.20032E-06
20671 4 E/K 4 rs770684884 0.5322 None gnomAD-2.1.1 1.77186E-04
20671 4 E/K 4 rs770684884 0.5322 None gnomAD-3.1.2 1.97E-05
20671 4 E/K 4 rs770684884 0.5322 None gnomAD-4.0.0 3.47089E-05
20672 5 P/A 5 rs1356638813 0.1893 None gnomAD-2.1.1 4.03E-06
20672 5 P/A 5 rs1356638813 0.1893 None gnomAD-4.0.0 1.36861E-06
20673 6 E/A 6 rs2049807287 0.5593 None gnomAD-4.0.0 1.59178E-06
20673 6 E/K 6 rs2049807795 0.5593 None gnomAD-4.0.0 1.36862E-06
20674 7 N/K 7 rs1171410396 0.6157 None gnomAD-2.1.1 4.03E-06
20674 7 N/K 7 rs1171410396 0.6157 None gnomAD-4.0.0 1.59179E-06
20675 8 L/H 9 rs1432751152 0.2218 None gnomAD-2.1.1 4.03E-06
20675 8 L/H 9 rs1432751152 0.2218 None gnomAD-4.0.0 2.40064E-06
20675 8 L/I 9 None 0.2218 None gnomAD-4.0.0 2.40064E-06
20677 10 I/N 12 None 0.3123 None gnomAD-4.0.0 2.05293E-06
20677 10 I/T 12 rs558670891 0.3123 None gnomAD-2.1.1 4.84E-05
20677 10 I/T 12 rs558670891 0.3123 None gnomAD-3.1.2 3.95E-05
20677 10 I/T 12 rs558670891 0.3123 None 1000 genomes 1.99681E-04
20677 10 I/T 12 rs558670891 0.3123 None gnomAD-4.0.0 3.59465E-05
20678 11 A/V 13 None 0.4807 None gnomAD-4.0.0 1.5918E-06
20679 12 D/E 14 rs878956804 0.5569 None gnomAD-2.1.1 4.03E-06
20679 12 D/E 14 rs878956804 0.5569 None gnomAD-4.0.0 4.10583E-06
20679 12 D/Y 14 None 0.5569 None gnomAD-4.0.0 4.77537E-06
20681 14 G/E 16 rs1031977069 0.2302 None gnomAD-3.1.2 6.58E-06
20681 14 G/E 16 rs1031977069 0.2302 None gnomAD-4.0.0 6.5767E-06
20681 14 G/R 16 rs778208423 0.2302 None gnomAD-2.1.1 4.03E-06
20681 14 G/R 16 rs778208423 0.2302 None gnomAD-4.0.0 1.5918E-06
20682 15 K/E 17 rs2049804283 0.4103 None gnomAD-3.1.2 6.57E-06
20682 15 K/E 17 rs2049804283 0.4103 None gnomAD-4.0.0 2.02977E-06
20682 15 K/M 17 None 0.4103 None gnomAD-4.0.0 4.79022E-06
20682 15 K/N 17 rs756250387 0.4103 None gnomAD-2.1.1 4.03E-06
20682 15 K/N 17 rs756250387 0.4103 None gnomAD-3.1.2 6.58E-06
20682 15 K/N 17 rs756250387 0.4103 None gnomAD-4.0.0 1.85944E-06
20683 16 T/I 18 rs1204341026 0.4742 None gnomAD-2.1.1 8.06E-06
20683 16 T/I 18 rs1204341026 0.4742 None gnomAD-4.0.0 4.79022E-06
20683 16 T/P 18 None 0.4742 None gnomAD-4.0.0 1.59183E-06
20683 16 T/R 18 None 0.4742 None gnomAD-4.0.0 6.84317E-07
20684 17 F/V 19 rs2049802658 0.3115 None gnomAD-3.1.2 6.58E-06
20684 17 F/V 19 rs2049802658 0.3115 None gnomAD-4.0.0 6.57696E-06
20685 18 V/F 20 rs748181916 0.1593 None gnomAD-2.1.1 4.03E-06
20685 18 V/F 20 rs748181916 0.1593 None gnomAD-4.0.0 4.1059E-06
20685 18 V/I 20 rs748181916 0.1593 None gnomAD-2.1.1 4.03E-06
20686 19 Y/C 21 rs755470129 0.4219 None gnomAD-2.1.1 4.03E-06
20686 19 Y/C 21 rs755470129 0.4219 None gnomAD-3.1.2 6.57E-06
20686 19 Y/C 21 rs755470129 0.4219 None gnomAD-4.0.0 5.57827E-06
20686 19 Y/H 21 rs781138196 0.4219 None gnomAD-2.1.1 4.03E-06
20687 20 L/V 22 rs76587526 0.1205 None gnomAD-2.1.1 1.21E-05
20687 20 L/V 22 rs76587526 0.1205 None gnomAD-4.0.0 2.25825E-05
20690 23 R/G 25 None 0.5563 None gnomAD-4.0.0 6.84331E-07
20690 23 R/L 25 None 0.5563 None gnomAD-4.0.0 6.84324E-07
20690 23 R/Q 25 rs753480368 0.5563 None gnomAD-2.1.1 8.07E-06
20690 23 R/Q 25 rs753480368 0.5563 None gnomAD-4.0.0 1.36865E-05
20690 23 R/W 25 rs758801935 0.5563 None gnomAD-2.1.1 8.07E-06
20690 23 R/W 25 rs758801935 0.5563 None gnomAD-4.0.0 6.15898E-06
20691 24 R/S 26 None 0.7538 None gnomAD-4.0.0 1.20032E-06
20692 25 P/T 27 None 0.2475 None gnomAD-4.0.0 1.59189E-06
20694 27 Y/S 29 None 0.5940 None gnomAD-4.0.0 1.20032E-06
20695 28 D/E 30 None 0.3270 None gnomAD-4.0.0 6.84338E-07
20695 28 D/N 30 None 0.3270 None gnomAD-4.0.0 4.79037E-06
20696 29 G/D 31 rs763791044 0.2576 None gnomAD-2.1.1 1.61E-05
20696 29 G/D 31 rs763791044 0.2576 None gnomAD-4.0.0 8.89658E-06
20697 30 G/S 32 rs889345827 0.6050 None gnomAD-3.1.2 6.58E-06
20697 30 G/S 32 rs889345827 0.6050 None gnomAD-4.0.0 6.57505E-06
20699 32 P/L 34 rs1553641061 0.6962 None gnomAD-4.0.0 3.18458E-06
20699 32 P/Q 34 None 0.6962 None gnomAD-4.0.0 1.59229E-06
20699 32 P/S 34 rs760330778 0.6962 None gnomAD-2.1.1 8.07E-06
20699 32 P/S 34 rs760330778 0.6962 None gnomAD-4.0.0 3.18446E-06
20700 33 N/D 35 rs151193056 0.3774 None gnomAD-2.1.1 8.24E-05
20700 33 N/D 35 rs151193056 0.3774 None gnomAD-3.1.2 2.23558E-04
20700 33 N/D 35 rs151193056 0.3774 None 1000 genomes 5.99042E-04
20700 33 N/D 35 rs151193056 0.3774 None gnomAD-4.0.0 3.59496E-05
20700 33 N/K 35 rs997630345 0.3774 None gnomAD-2.1.1 4.04E-06
20700 33 N/K 35 rs997630345 0.3774 None gnomAD-4.0.0 3.18449E-06
20701 34 L/Q 36 rs1383995916 0.5109 None gnomAD-3.1.2 6.58E-06
20701 34 L/Q 36 rs1383995916 0.5109 None gnomAD-4.0.0 6.57549E-06
20702 35 S/T 37 None 0.1900 None gnomAD-4.0.0 6.84416E-07
20703 36 Y/C 38 None 0.1407 None gnomAD-3.1.2 6.58E-06
20703 36 Y/C 38 None 0.1407 None gnomAD-4.0.0 6.57566E-06
20703 36 Y/H 38 rs774199758 0.1407 None gnomAD-2.1.1 1.21E-05
20703 36 Y/H 38 rs774199758 0.1407 None gnomAD-3.1.2 6.58E-06
20703 36 Y/H 38 rs774199758 0.1407 None gnomAD-4.0.0 1.42574E-05
20704 37 H/D 39 rs1553641034 0.2548 None gnomAD-4.0.0 4.79085E-06
20704 37 H/R 39 rs770845631 0.2548 None gnomAD-2.1.1 4.04E-06
20704 37 H/R 39 rs770845631 0.2548 None gnomAD-4.0.0 1.59231E-06
20705 38 V/I 40 rs1318869377 0.1035 None gnomAD-3.1.2 6.58E-06
20705 38 V/I 40 rs1318869377 0.1035 None gnomAD-4.0.0 2.56411E-06
20706 39 E/K 41 rs773156172 0.0854 None gnomAD-2.1.1 4.04E-06
20706 39 E/K 41 rs773156172 0.0854 None gnomAD-4.0.0 1.59244E-06
20708 41 R/S 43 rs377175428 0.2318 None gnomAD-2.1.1 8.08E-06
20708 41 R/S 43 rs377175428 0.2318 None gnomAD-4.0.0 4.10639E-06
20709 42 L/F 44 rs371705537 0.3689 None gnomAD-2.1.1 4.04E-06
20709 42 L/F 44 rs371705537 0.3689 None gnomAD-3.1.2 3.95E-05
20709 42 L/F 44 rs371705537 0.3689 None gnomAD-4.0.0 5.57906E-06
20710 43 K/Q 45 None 0.4897 None gnomAD-4.0.0 1.20032E-06
20713 46 D/N 63 rs1177521349 1.0018 None gnomAD-2.1.1 8.08E-06
20713 46 D/N 63 rs1177521349 1.0018 None gnomAD-3.1.2 3.29E-05
20713 46 D/N 63 rs1177521349 1.0018 None gnomAD-4.0.0 1.4257E-05
20714 47 D/E 64 None 0.8992 None gnomAD-4.0.0 1.20032E-06
20716 49 E/A 66 rs794729243 0.4527 None gnomAD-3.1.2 6.57E-06
20716 49 E/A 66 rs794729243 0.4527 None gnomAD-4.0.0 1.85953E-06
20716 49 E/K 66 None 0.4527 None gnomAD-4.0.0 5.47496E-06
20716 49 E/Q 66 rs548071435 0.4527 None gnomAD-2.1.1 8.08E-06
20716 49 E/Q 66 rs548071435 0.4527 None gnomAD-3.1.2 6.57E-06
20716 49 E/Q 66 rs548071435 0.4527 None 1000 genomes 1.99681E-04
20716 49 E/Q 66 rs548071435 0.4527 None gnomAD-4.0.0 2.47921E-06
20717 50 R/G 67 rs75458912 0.2569 None gnomAD-2.1.1 2.57955E-04
20717 50 R/G 67 rs75458912 0.2569 None gnomAD-3.1.2 8.55E-05
20717 50 R/G 67 rs75458912 0.2569 None 1000 genomes 3.99361E-04
20717 50 R/G 67 rs75458912 0.2569 None gnomAD-4.0.0 1.03506E-04
20718 51 V/A 68 None 0.1833 None gnomAD-4.0.0 4.77631E-06
20718 51 V/E 68 rs976375342 0.1833 None gnomAD-2.1.1 8.07E-06
20718 51 V/E 68 rs976375342 0.1833 None gnomAD-3.1.2 6.58E-06
20718 51 V/E 68 rs976375342 0.1833 None gnomAD-4.0.0 1.02565E-05
20718 51 V/L 68 None 0.1833 None gnomAD-4.0.0 1.36875E-06
20718 51 V/M 68 rs2049781632 0.1833 None gnomAD-4.0.0 6.84375E-07
20719 52 H/P 69 rs1477967306 0.1667 None gnomAD-2.1.1 3.19E-05
20719 52 H/P 69 rs1477967306 0.1667 None gnomAD-3.1.2 6.58E-06
20719 52 H/P 69 rs1477967306 0.1667 None gnomAD-4.0.0 6.5786E-06
20721 54 G/A 72 rs1656930545 0.5633 None gnomAD-3.1.2 6.58E-06
20721 54 G/A 72 rs1656930545 0.5633 None gnomAD-4.0.0 6.58051E-06
20722 55 S/N 75 rs568728579 0.6101 None gnomAD-3.1.2 6.58E-06
20722 55 S/N 75 rs568728579 0.6101 None gnomAD-4.0.0 2.56401E-06
20722 55 S/R 75 rs750725073 0.6101 None gnomAD-2.1.1 4.04E-06
20722 55 S/R 75 rs750725073 0.6101 None gnomAD-4.0.0 2.05309E-06
20722 55 S/T 75 rs568728579 0.6101 None gnomAD-2.1.1 4.03E-06
20722 55 S/T 75 rs568728579 0.6101 None gnomAD-3.1.2 6.58E-06
20722 55 S/T 75 rs568728579 0.6101 None 1000 genomes 1.99681E-04
20722 55 S/T 75 rs568728579 0.6101 None gnomAD-4.0.0 6.57722E-06
20723 56 I/T 77 rs779251870 0.1185 None gnomAD-2.1.1 4.03E-06
20723 56 I/T 77 rs779251870 0.1185 None gnomAD-4.0.0 1.59205E-06
20723 56 I/V 77 None 0.1185 None gnomAD-4.0.0 1.20032E-06
20729 62 M/I 92 None 0.3993 None gnomAD-4.0.0 1.59214E-06
20729 62 M/V 92 None 0.3993 None gnomAD-4.0.0 1.59209E-06
20730 63 V/A 93 rs752344332 0.1409 None gnomAD-2.1.1 2.82E-05
20730 63 V/A 93 rs752344332 0.1409 None gnomAD-3.1.2 6.58E-06
20730 63 V/A 93 rs752344332 0.1409 None gnomAD-4.0.0 1.11583E-05
20730 63 V/I 93 rs1049072812 0.1409 None gnomAD-2.1.1 4.03E-06
20730 63 V/I 93 rs1049072812 0.1409 None gnomAD-4.0.0 4.10619E-06
20731 64 D/G 94 None 0.4456 None gnomAD-4.0.0 2.40064E-06
20732 65 R/S 96 None 0.6859 None gnomAD-4.0.0 6.36819E-06
20733 66 C/R 97 None 0.1135 None gnomAD-4.0.0 3.60097E-06
20733 66 C/S 97 None 0.1135 None gnomAD-4.0.0 1.59218E-06
20734 67 V/I 98 None 0.5228 None gnomAD-4.0.0 1.20032E-06
20735 68 E/G 99 rs767027188 0.2973 None gnomAD-2.1.1 4.03E-06
20735 68 E/G 99 rs767027188 0.2973 None gnomAD-4.0.0 1.59219E-06
20736 69 N/Y 100 None 0.5483 None gnomAD-4.0.0 1.20032E-06
20737 70 Q/P 102 None 0.4171 None gnomAD-4.0.0 1.5921E-06
20738 71 I/M 103 rs1388003753 0.3055 None gnomAD-2.1.1 1.61E-05
20738 71 I/M 103 rs1388003753 0.3055 None gnomAD-3.1.2 6.58E-06
20738 71 I/M 103 rs1388003753 0.3055 None gnomAD-4.0.0 6.81869E-06
20738 71 I/T 103 rs1455500759 0.3055 None gnomAD-3.1.2 6.58E-06
20738 71 I/T 103 rs1455500759 0.3055 None gnomAD-4.0.0 6.57938E-06
20739 72 Y/C 104 rs751502535 0.1455 None gnomAD-2.1.1 7.16E-06
20739 72 Y/C 104 rs751502535 0.1455 None gnomAD-3.1.2 1.97E-05
20739 72 Y/C 104 rs751502535 0.1455 None gnomAD-4.0.0 4.33895E-06
20739 72 Y/F 104 rs751502535 0.1455 None gnomAD-2.1.1 4.03E-06
20739 72 Y/F 104 rs751502535 0.1455 None gnomAD-4.0.0 1.36874E-06
20740 73 E/D 105 rs766362512 0.1625 None gnomAD-2.1.1 4.03E-06
20740 73 E/D 105 rs766362512 0.1625 None gnomAD-4.0.0 1.59209E-06
20740 73 E/K 105 rs1451572769 0.1625 None gnomAD-2.1.1 8.06E-06
20740 73 E/K 105 rs1451572769 0.1625 None gnomAD-3.1.2 6.58E-06
20740 73 E/K 105 rs1451572769 0.1625 None gnomAD-4.0.0 1.36367E-05
20740 73 E/V 105 rs559490402 0.1625 None gnomAD-2.1.1 4.03E-06
20740 73 E/V 105 rs559490402 0.1625 None gnomAD-3.1.2 6.57E-06
20740 73 E/V 105 rs559490402 0.1625 None gnomAD-4.0.0 4.33895E-06
20742 75 R/G 107 None 0.1022 None gnomAD-4.0.0 3.60097E-06
20743 76 V/A 108 rs762990827 0.0906 None gnomAD-3.1.2 6.58E-06
20743 76 V/A 108 rs762990827 0.0906 None gnomAD-4.0.0 1.85975E-06
20745 78 T/A 110 rs374085176 0.1085 None gnomAD-2.1.1 1.07E-05
20745 78 T/A 110 rs374085176 0.1085 None gnomAD-3.1.2 1.97E-05
20745 78 T/A 110 rs374085176 0.1085 None gnomAD-4.0.0 4.95877E-06
20747 80 N/K 112 rs2049763633 0.1107 None gnomAD-3.1.2 6.58E-06
20747 80 N/K 112 rs2049763633 0.1107 None gnomAD-4.0.0 6.57929E-06
20747 80 N/T 112 rs1211138085 0.1107 None gnomAD-2.1.1 3.19E-05
20747 80 N/T 112 rs1211138085 0.1107 None gnomAD-3.1.2 6.57E-06
20747 80 N/T 112 rs1211138085 0.1107 None gnomAD-4.0.0 6.57462E-06
20747 80 N/Y 112 rs2049764957 0.1107 None gnomAD-3.1.2 6.58E-06
20747 80 N/Y 112 rs2049764957 0.1107 None gnomAD-4.0.0 6.57661E-06
20748 81 E/K 113 rs774998817 0.7916 None gnomAD-4.0.0 1.5921E-06
20749 82 G/D 114 rs762072522 0.4632 None gnomAD-2.1.1 4.03E-05
20749 82 G/D 114 rs762072522 0.4632 None gnomAD-4.0.0 1.28154E-05
20749 82 G/S 114 rs769732478 0.4632 None gnomAD-2.1.1 4.03E-06
20749 82 G/S 114 rs769732478 0.4632 None gnomAD-4.0.0 7.52797E-06
20750 83 G/R 115 rs776757434 0.1837 None gnomAD-2.1.1 4.03E-06
20750 83 G/R 115 rs776757434 0.1837 None gnomAD-4.0.0 1.59213E-06
20751 84 E/K 116 rs926520394 0.4243 None gnomAD-4.0.0 3.18416E-06
20753 86 D/E 119 None 0.8204 None gnomAD-4.0.0 1.20032E-06
20753 86 D/N 119 rs879217628 0.8204 None gnomAD-4.0.0 1.59209E-06
20753 86 D/V 119 None 0.8204 None gnomAD-4.0.0 1.59207E-06
20758 91 E/K 124 rs794729470 0.9776 None gnomAD-4.0.0 7.5279E-06
20758 91 E/V 124 None 0.9776 None gnomAD-4.0.0 1.20032E-06
20759 92 E/K 125 rs562680371 0.4849 None gnomAD-2.1.1 5.08061E-04
20759 92 E/K 125 rs562680371 0.4849 None gnomAD-3.1.2 2.23608E-04
20759 92 E/K 125 rs562680371 0.4849 None 1000 genomes 1.19808E-03
20759 92 E/K 125 rs562680371 0.4849 None gnomAD-4.0.0 2.64661E-04
20760 93 V/I 126 None 0.2709 None gnomAD-4.0.0 2.40064E-06
20763 96 K/T 130 None 0.6003 None gnomAD-4.0.0 1.20032E-06
20764 97 E/Q 131 rs397517651 0.7148 None gnomAD-2.1.1 1.43E-05
20764 97 E/Q 131 rs397517651 0.7148 None gnomAD-3.1.2 6.58E-05
20764 97 E/Q 131 rs397517651 0.7148 None gnomAD-4.0.0 1.11574E-05
20765 98 D/A 132 None 0.8759 None gnomAD-4.0.0 1.20032E-06