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

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
20569 1 R/K 1 rs371014957 0.4613 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.4613 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.4613 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.0950 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.0950 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.0950 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.1561 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.2777 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.2777 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.2777 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.2777 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.2777 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.0846 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.0846 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.3099 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.7308 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.7308 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.7308 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.7308 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2802 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.3285 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.5496 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.5496 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.5496 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.5496 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.2502 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.2502 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.2502 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.2502 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.2502 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.2502 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.4994 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.2429 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.1436 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.1436 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.1436 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.1436 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.1609 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.1609 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.1609 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.1609 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.1609 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.1609 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.4001 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.4001 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.3409 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.3409 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.3409 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 0.8274 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 0.8274 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.2932 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.3768 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.3768 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.5568 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.5568 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.9491 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.9491 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.2079 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.2079 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.2079 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.5688 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2223 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2223 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2223 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2223 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2223 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2223 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2223 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2223 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2223 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1584 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1584 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1584 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1221 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1221 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1221 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1221 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1221 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1221 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.1872 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.3269 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.3269 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.3269 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.3269 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3437 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3437 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3437 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3437 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3437 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3437 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2461 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2484 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2484 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2484 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.4784 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.4784 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.4784 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2707 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2707 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.1554 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.6283 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.4197 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.5769 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.5769 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.5769 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.2242 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.1520 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.1520 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.3897 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1498 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1498 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1498 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1498 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.3693 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.3693 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.3693 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.3693 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.9653 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.1282 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.1282 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.8034 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.8034 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.8034 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.3355 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3319 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0681 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0681 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.2334 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.2334 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.2334 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.2334 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.2334 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.2334 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1558 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1558 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1558 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1558 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0735 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1191 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1191 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1191 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1191 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1191 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.0995 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.0995 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.0995 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.8895 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.8895 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.4609 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.4409 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.4409 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.4409 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1575 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3083 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3083 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.1278 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.1278 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.3216 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.3216 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.3216 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2365 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2365 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2560 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.1002 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.1002 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.1002 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.3852 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.3852 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.3852 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.8918 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.8918 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.8918 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.8918 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.8918 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.8918 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.8918 None gnomAD-4.0.0 2.7372E-06