Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

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
25601 1 T/K 1 rs374913031 0.4538 None gnomAD-2.1.1 4.03E-06
25601 1 T/K 1 rs374913031 0.4538 None gnomAD-3.1.2 6.58E-06
25601 1 T/K 1 rs374913031 0.4538 None gnomAD-4.0.0 3.71946E-06
25601 1 T/M 1 rs374913031 0.4538 None gnomAD-2.1.1 5.24E-05
25601 1 T/M 1 rs374913031 0.4538 None gnomAD-3.1.2 3.95E-05
25601 1 T/M 1 rs374913031 0.4538 None gnomAD-4.0.0 2.0457E-05
25602 2 P/S 2 rs1707254187 0.1028 None gnomAD-3.1.2 6.58E-06
25602 2 P/S 2 rs1707254187 0.1028 None gnomAD-4.0.0 2.03009E-06
25603 3 S/G 3 rs1446500939 0.1614 None gnomAD-3.1.2 6.57E-06
25603 3 S/G 3 rs1446500939 0.1614 None gnomAD-4.0.0 6.57341E-06
25604 4 P/L 4 rs1707251307 0.2639 None gnomAD-4.0.0 2.0538E-06
25605 5 P/A 5 rs1471696934 0.1309 None gnomAD-2.1.1 4.03E-06
25605 5 P/A 5 rs1471696934 0.1309 None gnomAD-4.0.0 1.59343E-06
25606 6 V/A 6 rs1343757002 0.2462 None gnomAD-3.1.2 1.31E-05
25606 6 V/A 6 rs1343757002 0.2462 None gnomAD-4.0.0 1.31465E-05
25606 6 V/I 6 rs794729501 0.2462 None gnomAD-2.1.1 4.03E-06
25606 6 V/I 6 rs794729501 0.2462 None gnomAD-3.1.2 1.97E-05
25606 6 V/I 6 rs794729501 0.2462 None gnomAD-4.0.0 7.44128E-06
25606 6 V/L 6 rs794729501 0.2462 None gnomAD-2.1.1 4.03E-06
25606 6 V/L 6 rs794729501 0.2462 None gnomAD-4.0.0 6.84686E-07
25608 8 L/P 9 None 0.2657 None gnomAD-4.0.0 1.59571E-06
25609 9 K/R 11 None 0.5161 None gnomAD-4.0.0 1.20032E-06
25611 11 T/R 13 None 0.4550 None gnomAD-4.0.0 6.85287E-07
25612 12 E/D 14 rs1707240113 0.5135 None gnomAD-4.0.0 1.20032E-06
25613 13 I/N 15 rs1553601096 0.2683 None gnomAD-4.0.0 1.20032E-06
25613 13 I/V 15 rs1707239042 0.2683 None gnomAD-3.1.2 6.57E-06
25613 13 I/V 15 rs1707239042 0.2683 None gnomAD-4.0.0 3.04496E-06
25615 15 K/R 17 rs1707237309 0.5915 None gnomAD-3.1.2 6.57E-06
25615 15 K/R 17 rs1707237309 0.5915 None gnomAD-4.0.0 2.57242E-06
25616 16 D/N 18 None 0.4063 None gnomAD-4.0.0 1.59988E-06
25617 17 S/L 19 None 0.1262 None gnomAD-4.0.0 1.20032E-06
25618 18 V/I 20 None 0.0940 None gnomAD-4.0.0 1.20032E-06
25620 20 I/V 22 rs773656560 0.1039 None gnomAD-2.1.1 2.04E-05
25620 20 I/V 22 rs773656560 0.1039 None gnomAD-3.1.2 1.97E-05
25620 20 I/V 22 rs773656560 0.1039 None gnomAD-4.0.0 2.86013E-05
25622 22 W/R 24 None 0.0980 None gnomAD-4.0.0 1.20032E-06
25623 23 E/G 25 None 0.3782 None gnomAD-4.0.0 1.61171E-06
25624 24 P/A 26 None 0.4273 None gnomAD-4.0.0 1.20032E-06
25624 24 P/L 26 None 0.4273 None gnomAD-4.0.0 1.61278E-06
25626 26 L/F 28 None 0.9371 None gnomAD-4.0.0 6.88414E-07
25628 28 D/V 30 None 0.3121 None gnomAD-4.0.0 1.61563E-06
25629 29 G/E 31 rs1707221923 0.2947 None gnomAD-4.0.0 1.37779E-06
25630 30 G/A 32 None 0.5828 None gnomAD-4.0.0 1.37852E-06
25630 30 G/R 32 None 0.5828 None gnomAD-4.0.0 1.20033E-06
25630 30 G/V 32 rs760386525 0.5828 None gnomAD-2.1.1 2.49E-05
25630 30 G/V 32 rs760386525 0.5828 None gnomAD-3.1.2 6.58E-06
25630 30 G/V 32 rs760386525 0.5828 None gnomAD-4.0.0 6.23888E-06
25631 31 S/C 33 None 0.1448 None gnomAD-4.0.0 2.75659E-06
25631 31 S/P 33 None 0.1448 None gnomAD-4.0.0 1.20032E-06
25632 32 K/T 34 rs984799615 0.8258 None gnomAD-3.1.2 1.31E-05
25632 32 K/T 34 rs984799615 0.8258 None gnomAD-4.0.0 4.05989E-06
25633 33 I/V 35 None 0.2012 None gnomAD-4.0.0 1.20032E-06
25635 35 N/K 37 None 0.1770 None gnomAD-4.0.0 6.88841E-07
25636 36 Y/C 38 rs2154167623 0.1150 None gnomAD-4.0.0 1.61512E-06
25636 36 Y/S 38 None 0.1150 None gnomAD-4.0.0 1.61512E-06
25637 37 I/V 39 rs1282968520 0.1701 None gnomAD-2.1.1 8.26E-06
25637 37 I/V 39 rs1282968520 0.1701 None gnomAD-3.1.2 6.57E-06
25637 37 I/V 39 rs1282968520 0.1701 None gnomAD-4.0.0 3.73926E-06
25638 38 V/A 40 rs771843047 0.0950 None gnomAD-2.1.1 4.11E-06
25638 38 V/A 40 rs771843047 0.0950 None gnomAD-4.0.0 1.37563E-06
25638 38 V/I 40 None 0.0950 None gnomAD-4.0.0 1.61223E-06
25639 39 E/Q 41 None 0.1388 None gnomAD-4.0.0 1.61054E-06
25641 41 R/C 43 rs549745098 0.1692 None gnomAD-2.1.1 2.05E-05
25641 41 R/C 43 rs549745098 0.1692 None gnomAD-3.1.2 1.32E-05
25641 41 R/C 43 rs549745098 0.1692 None 1000 genomes 1.99681E-04
25641 41 R/C 43 rs549745098 0.1692 None gnomAD-4.0.0 6.84366E-06
25641 41 R/H 43 rs369707906 0.1692 None gnomAD-2.1.1 6.31795E-04
25641 41 R/H 43 rs369707906 0.1692 None gnomAD-3.1.2 2.89348E-04
25641 41 R/H 43 rs369707906 0.1692 None 1000 genomes 1.99681E-03
25641 41 R/H 43 rs369707906 0.1692 None gnomAD-4.0.0 4.96591E-04
25641 41 R/L 43 None 0.1692 None gnomAD-4.0.0 6.87392E-07
25642 42 E/K 44 rs1455903337 0.2408 None gnomAD-4.0.0 1.6038E-06
25643 43 A/G 50 None 0.2724 None gnomAD-4.0.0 1.60351E-06
25643 43 A/T 50 None 0.2724 None gnomAD-4.0.0 1.60365E-06
25647 47 S/T 64 None 0.5642 None gnomAD-4.0.0 1.20032E-06
25648 48 Y/H 65 rs376340301 0.2178 None gnomAD-2.1.1 4.08E-06
25649 49 A/T 66 None 0.3586 None gnomAD-4.0.0 1.37102E-06
25650 50 A/D 67 rs886042780 0.4183 None gnomAD-2.1.1 4.05E-06
25650 50 A/D 67 rs886042780 0.4183 None gnomAD-3.1.2 6.58E-06
25650 50 A/D 67 rs886042780 0.4183 None gnomAD-4.0.0 8.68662E-06
25650 50 A/S 67 None 0.4183 None gnomAD-4.0.0 3.19194E-06
25651 51 V/A 68 rs370768049 0.2597 None gnomAD-2.1.1 1.62E-05
25651 51 V/A 68 rs370768049 0.2597 None gnomAD-3.1.2 1.31E-05
25651 51 V/A 68 rs370768049 0.2597 None gnomAD-4.0.0 7.44383E-06
25651 51 V/F 68 rs1219661897 0.2597 None gnomAD-2.1.1 3.19E-05
25651 51 V/F 68 rs1219661897 0.2597 None gnomAD-3.1.2 1.31E-05
25651 51 V/F 68 rs1219661897 0.2597 None gnomAD-4.0.0 8.06465E-06
25654 54 N/K 75 rs755800765 0.6512 None gnomAD-2.1.1 1.21E-05
25654 54 N/K 75 rs755800765 0.6512 None gnomAD-3.1.2 6.58E-06
25654 54 N/K 75 rs755800765 0.6512 None gnomAD-4.0.0 6.41134E-06
25655 55 C/R 77 rs752535050 0.0743 None gnomAD-2.1.1 2.02E-05
25655 55 C/R 77 rs752535050 0.0743 None gnomAD-4.0.0 8.21389E-06
25656 56 H/R 83 rs755172663 0.7033 None gnomAD-2.1.1 1.79E-05
25656 56 H/R 83 rs755172663 0.7033 None gnomAD-3.1.2 1.97E-05
25656 56 H/R 83 rs755172663 0.7033 None gnomAD-4.0.0 1.02555E-05
25656 56 H/Y 83 rs781451643 0.7033 None gnomAD-2.1.1 2.42E-05
25656 56 H/Y 83 rs781451643 0.7033 None gnomAD-3.1.2 1.32E-05
25656 56 H/Y 83 rs781451643 0.7033 None gnomAD-4.0.0 5.08354E-05
25657 57 K/Q 88 None 0.7714 None gnomAD-4.0.0 1.59245E-06
25657 57 K/T 88 None 0.7714 None gnomAD-4.0.0 2.40064E-06
25658 58 N/S 89 None 0.2422 None gnomAD-4.0.0 1.59233E-06
25662 62 I/N 93 None 0.0851 None gnomAD-4.0.0 6.84385E-07
25662 62 I/T 93 None 0.0851 None gnomAD-4.0.0 6.84385E-07
25662 62 I/V 93 None 0.0851 None gnomAD-4.0.0 1.59217E-06
25663 63 D/N 94 rs143186270 0.5670 None gnomAD-2.1.1 1.46594E-04
25663 63 D/N 94 rs143186270 0.5670 None gnomAD-3.1.2 3.41934E-04
25663 63 D/N 94 rs143186270 0.5670 None 1000 genomes 1.99681E-04
25663 63 D/N 94 rs143186270 0.5670 None gnomAD-4.0.0 1.35122E-04
25663 63 D/Y 94 rs143186270 0.5670 None gnomAD-2.1.1 1.21E-05
25663 63 D/Y 94 rs143186270 0.5670 None gnomAD-4.0.0 7.52829E-06
25664 64 Q/R 96 rs750836294 0.7969 None gnomAD-2.1.1 1.61E-05
25664 64 Q/R 96 rs750836294 0.7969 None gnomAD-3.1.2 6.57E-06
25664 64 Q/R 96 rs750836294 0.7969 None gnomAD-4.0.0 4.33896E-06
25665 65 L/F 97 None 0.1135 None gnomAD-4.0.0 1.20033E-06
25665 65 L/H 97 None 0.1135 None gnomAD-4.0.0 6.8435E-07
25665 65 L/R 97 rs188012906 0.1135 None gnomAD-2.1.1 8.05E-06
25665 65 L/R 97 rs188012906 0.1135 None gnomAD-3.1.2 1.97E-05
25665 65 L/R 97 rs188012906 0.1135 None 1000 genomes 3.99361E-04
25665 65 L/R 97 rs188012906 0.1135 None gnomAD-4.0.0 3.09897E-06
25667 67 E/G 99 rs777038781 0.4412 None gnomAD-2.1.1 4.03E-06
25667 67 E/G 99 rs777038781 0.4412 None gnomAD-4.0.0 3.18409E-06
25668 68 G/V 100 rs771896110 0.2729 None gnomAD-2.1.1 4.02E-06
25668 68 G/V 100 rs771896110 0.2729 None gnomAD-4.0.0 1.59196E-06
25669 69 C/S 102 None 0.1957 None gnomAD-4.0.0 1.20032E-06
25670 70 S/G 103 None 0.2042 None gnomAD-4.0.0 2.73734E-06
25670 70 S/T 103 rs774024917 0.2042 None gnomAD-2.1.1 4.02E-06
25670 70 S/T 103 rs774024917 0.2042 None gnomAD-3.1.2 1.97E-05
25670 70 S/T 103 rs774024917 0.2042 None gnomAD-4.0.0 5.07503E-06
25675 75 V/I 108 None 0.0837 None gnomAD-4.0.0 1.59196E-06
25677 77 A/V 110 None 0.0961 None gnomAD-4.0.0 1.59208E-06
25679 79 N/D 112 rs770512378 0.0887 None gnomAD-4.0.0 1.36873E-06
25679 79 N/H 112 rs770512378 0.0887 None gnomAD-2.1.1 2.14E-05
25679 79 N/H 112 rs770512378 0.0887 None gnomAD-3.1.2 1.31E-05
25679 79 N/H 112 rs770512378 0.0887 None gnomAD-4.0.0 1.73555E-05
25679 79 N/K 112 None 0.0887 None gnomAD-4.0.0 6.84379E-07
25679 79 N/S 112 rs749255859 0.0887 None gnomAD-2.1.1 4.03E-06
25679 79 N/S 112 rs749255859 0.0887 None gnomAD-4.0.0 1.59208E-06
25680 80 E/D 113 None 0.3549 None gnomAD-4.0.0 6.84361E-07
25680 80 E/K 113 rs1385780245 0.3549 None gnomAD-2.1.1 4.02E-06
25680 80 E/K 113 rs1385780245 0.3549 None gnomAD-4.0.0 3.1841E-06
25681 81 Y/C 114 rs988101069 0.5581 None gnomAD-2.1.1 3.19E-05
25681 81 Y/C 114 rs988101069 0.5581 None gnomAD-3.1.2 6.57E-06
25681 81 Y/C 114 rs988101069 0.5581 None gnomAD-4.0.0 2.02998E-06
25681 81 Y/S 114 None 0.5581 None gnomAD-4.0.0 2.40064E-06
25682 82 G/D 115 rs1249623896 0.1910 None gnomAD-2.1.1 8.05E-06
25682 82 G/D 115 rs1249623896 0.1910 None gnomAD-4.0.0 6.84363E-07
25682 82 G/S 115 rs1331550324 0.1910 None gnomAD-2.1.1 3.19E-05
25682 82 G/V 115 None 0.1910 None gnomAD-4.0.0 1.36873E-06
25683 83 I/F 117 rs375611562 0.5165 None gnomAD-2.1.1 8.05E-06
25683 83 I/F 117 rs375611562 0.5165 None gnomAD-4.0.0 1.36873E-06
25683 83 I/M 117 rs755225678 0.5165 None gnomAD-2.1.1 4.02E-06
25683 83 I/M 117 rs755225678 0.5165 None gnomAD-3.1.2 6.57E-06
25683 83 I/M 117 rs755225678 0.5165 None gnomAD-4.0.0 4.06001E-06
25683 83 I/S 117 None 0.5165 None gnomAD-4.0.0 1.59208E-06
25683 83 I/T 117 rs1707153104 0.5165 None gnomAD-4.0.0 1.59208E-06
25683 83 I/V 117 rs375611562 0.5165 None gnomAD-2.1.1 1.79E-05
25683 83 I/V 117 rs375611562 0.5165 None gnomAD-3.1.2 7.89E-05
25683 83 I/V 117 rs375611562 0.5165 None gnomAD-4.0.0 1.17771E-05
25685 85 L/F 119 rs1707149968 0.6298 None gnomAD-3.1.2 6.58E-06
25685 85 L/F 119 rs1707149968 0.6298 None gnomAD-4.0.0 2.47948E-06
25687 87 A/T 121 rs1707146929 0.1247 None gnomAD-3.1.2 6.58E-06
25687 87 A/T 121 rs1707146929 0.1247 None gnomAD-4.0.0 6.5767E-06
25688 88 Q/H 122 rs2154167487 0.5955 None gnomAD-4.0.0 1.59231E-06
25688 88 Q/R 122 None 0.5955 None gnomAD-4.0.0 1.20032E-06
25689 89 T/A 123 rs1360848714 0.2176 None gnomAD-2.1.1 7.15E-06
25689 89 T/A 123 rs1360848714 0.2176 None gnomAD-3.1.2 1.32E-05
25689 89 T/A 123 rs1360848714 0.2176 None gnomAD-4.0.0 2.47952E-06
25689 89 T/I 123 None 0.2176 None gnomAD-4.0.0 1.36877E-06
25689 89 T/N 123 rs369081503 0.2176 None gnomAD-2.1.1 4.03E-06
25689 89 T/N 123 rs369081503 0.2176 None gnomAD-4.0.0 1.02658E-05
25690 90 A/G 124 rs1344792922 0.6250 None gnomAD-2.1.1 4.03E-06
25690 90 A/G 124 rs1344792922 0.6250 None gnomAD-4.0.0 1.36883E-06
25690 90 A/T 124 rs758341420 0.6250 None gnomAD-2.1.1 4.03E-06
25690 90 A/T 124 rs758341420 0.6250 None gnomAD-4.0.0 9.58187E-06
25690 90 A/V 124 None 0.6250 None gnomAD-4.0.0 1.36883E-06
25691 91 D/G 125 rs1296651230 0.7322 None gnomAD-2.1.1 4.03E-06
25691 91 D/G 125 rs1296651230 0.7322 None gnomAD-4.0.0 1.5923E-06
25692 92 P/A 126 None 0.3100 None gnomAD-4.0.0 2.40064E-06
25693 93 I/N 127 None 0.2189 None gnomAD-4.0.0 1.20032E-06
25693 93 I/T 127 None 0.2189 None gnomAD-4.0.0 1.20032E-06
25693 93 I/V 127 rs765718348 0.2189 None gnomAD-2.1.1 4.03E-06
25693 93 I/V 127 rs765718348 0.2189 None gnomAD-4.0.0 3.42205E-06
25694 94 K/N 129 rs757757476 0.2446 None gnomAD-2.1.1 4.03E-06
25694 94 K/N 129 rs757757476 0.2446 None gnomAD-4.0.0 1.59237E-06
25697 97 E/K 132 rs754291492 0.3041 None gnomAD-2.1.1 4.03E-06
25697 97 E/K 132 rs754291492 0.3041 None gnomAD-4.0.0 3.42208E-06
25697 97 E/V 132 rs764509751 0.3041 None gnomAD-2.1.1 4.03E-06
25697 97 E/V 132 rs764509751 0.3041 None gnomAD-3.1.2 6.58E-06
25697 97 E/V 132 rs764509751 0.3041 None gnomAD-4.0.0 1.85966E-06