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

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
20479 1 D/N 1 rs773754692 0.3244 None gnomAD-2.1.1 4.69E-06
20479 1 D/N 1 rs773754692 0.3244 None gnomAD-4.0.0 1.7074E-06
20480 2 V/F 2 rs1043320696 0.6898 None gnomAD-3.1.2 6.58E-06
20480 2 V/F 2 rs1043320696 0.6898 None gnomAD-4.0.0 1.91008E-06
20480 2 V/I 2 None 0.6898 None gnomAD-4.0.0 1.40984E-06
20481 3 T/S 3 None 0.6134 None gnomAD-4.0.0 1.20032E-06
20482 4 C/R 4 None 0.1253 None gnomAD-4.0.0 4.93422E-06
20482 4 C/Y 4 rs1457364268 0.1253 None gnomAD-2.1.1 4.71E-06
20483 5 R/C 5 rs770139489 0.4322 None gnomAD-2.1.1 1.62E-05
20483 5 R/C 5 rs770139489 0.4322 None gnomAD-3.1.2 2.63E-05
20483 5 R/C 5 rs770139489 0.4322 None gnomAD-4.0.0 6.99394E-06
20483 5 R/H 5 rs748693257 0.4322 None gnomAD-2.1.1 9.29E-06
20483 5 R/H 5 rs748693257 0.4322 None gnomAD-3.1.2 6.58E-06
20483 5 R/H 5 rs748693257 0.4322 None gnomAD-4.0.0 2.41634E-05
20483 5 R/L 5 rs748693257 0.4322 None gnomAD-4.0.0 7.03911E-07
20484 6 D/H 10 None 0.9025 None gnomAD-4.0.0 1.40687E-06
20484 6 D/Y 10 None 0.9025 None gnomAD-4.0.0 7.03433E-07
20488 10 V/A 16 rs778745953 0.1578 None gnomAD-2.1.1 4.58E-06
20488 10 V/A 16 rs778745953 0.1578 None gnomAD-3.1.2 6.58E-06
20488 10 V/A 16 rs778745953 0.1578 None gnomAD-4.0.0 2.6823E-06
20488 10 V/L 16 None 0.1578 None gnomAD-4.0.0 7.00948E-07
20488 10 V/M 16 rs77957535 0.1578 None gnomAD-2.1.1 2.74E-05
20488 10 V/M 16 rs77957535 0.1578 None gnomAD-3.1.2 2.63E-05
20488 10 V/M 16 rs77957535 0.1578 None gnomAD-4.0.0 1.39352E-05
20489 11 R/K 18 rs562641765 0.7161 None gnomAD-2.1.1 1.82E-05
20489 11 R/K 18 rs562641765 0.7161 None gnomAD-3.1.2 2.63E-05
20489 11 R/K 18 rs562641765 0.7161 None 1000 genomes 3.99361E-04
20489 11 R/K 18 rs562641765 0.7161 None gnomAD-4.0.0 6.32606E-06
20490 12 V/A 23 None 0.4613 None gnomAD-4.0.0 3.49814E-06
20490 12 V/I 23 rs777345561 0.4613 None gnomAD-2.1.1 4.53E-06
20490 12 V/I 23 rs777345561 0.4613 None gnomAD-4.0.0 1.39927E-06
20491 13 G/A 24 None 0.3138 None gnomAD-4.0.0 6.98714E-07
20491 13 G/R 24 None 0.3138 None gnomAD-4.0.0 6.98643E-07
20491 13 G/S 24 rs1341970631 0.3138 None gnomAD-2.1.1 4.49E-06
20491 13 G/S 24 rs1341970631 0.3138 None gnomAD-4.0.0 6.98643E-07
20492 14 Q/K 25 rs2154184267 0.4283 None gnomAD-3.1.2 6.58E-06
20492 14 Q/K 25 rs2154184267 0.4283 None gnomAD-4.0.0 3.15482E-06
20494 16 I/L 28 None 0.1242 None gnomAD-4.0.0 6.97205E-07
20494 16 I/T 28 rs374845737 0.1242 None gnomAD-2.1.1 2.21E-05
20494 16 I/T 28 rs374845737 0.1242 None gnomAD-3.1.2 3.95E-05
20494 16 I/T 28 rs374845737 0.1242 None gnomAD-4.0.0 1.58831E-05
20494 16 I/V 28 None 0.1242 None gnomAD-4.0.0 1.39441E-06
20495 17 R/C 29 rs370128504 0.5124 None gnomAD-2.1.1 1.77E-05
20495 17 R/C 29 rs370128504 0.5124 None gnomAD-3.1.2 2.63E-05
20495 17 R/C 29 rs370128504 0.5124 None gnomAD-4.0.0 2.5809E-05
20495 17 R/G 29 rs370128504 0.5124 None gnomAD-2.1.1 3.09E-05
20495 17 R/G 29 rs370128504 0.5124 None gnomAD-4.0.0 5.56867E-06
20495 17 R/H 29 rs775137607 0.5124 None gnomAD-2.1.1 5.81E-05
20495 17 R/H 29 rs775137607 0.5124 None gnomAD-3.1.2 1.11849E-04
20495 17 R/H 29 rs775137607 0.5124 None gnomAD-4.0.0 5.16057E-05
20495 17 R/L 29 rs775137607 0.5124 None gnomAD-2.1.1 8.82E-06
20495 17 R/L 29 rs775137607 0.5124 None gnomAD-4.0.0 2.78362E-06
20496 18 I/F 30 None 0.1132 None gnomAD-4.0.0 1.65244E-06
20496 18 I/M 30 rs886042497 0.1132 None gnomAD-3.1.2 6.58E-06
20496 18 I/M 30 rs886042497 0.1132 None gnomAD-4.0.0 7.54018E-06
20497 19 L/P 31 None 0.3241 None gnomAD-4.0.0 2.08202E-06
20497 19 L/V 31 rs1323115557 0.3241 None gnomAD-2.1.1 4.36E-06
20497 19 L/V 31 rs1323115557 0.3241 None gnomAD-4.0.0 1.64792E-06
20498 20 A/V 33 rs145131899 0.0993 None gnomAD-2.1.1 1.74E-05
20498 20 A/V 33 rs145131899 0.0993 None gnomAD-3.1.2 6.58E-06
20498 20 A/V 33 rs145131899 0.0993 None 1000 genomes 1.99681E-04
20498 20 A/V 33 rs145131899 0.0993 None gnomAD-4.0.0 3.94527E-06
20499 21 R/Q 34 rs201286988 0.7034 None gnomAD-2.1.1 3.03E-05
20499 21 R/Q 34 rs201286988 0.7034 None gnomAD-4.0.0 3.11903E-05
20500 22 V/L 35 None 0.1261 None gnomAD-4.0.0 1.63546E-06
20502 24 G/R 40 rs773099372 0.2240 None gnomAD-2.1.1 2.98E-05
20502 24 G/R 40 rs773099372 0.2240 None gnomAD-3.1.2 6.58E-06
20502 24 G/R 40 rs773099372 0.2240 None gnomAD-4.0.0 2.2189E-05
20502 24 G/S 40 None 0.2240 None gnomAD-4.0.0 1.6282E-06
20504 26 P/A 42 rs765388232 0.4406 None gnomAD-2.1.1 4.18E-06
20504 26 P/A 42 rs765388232 0.4406 None gnomAD-4.0.0 6.88953E-07
20504 26 P/S 42 rs765388232 0.4406 None gnomAD-2.1.1 4.18E-06
20504 26 P/S 42 rs765388232 0.4406 None gnomAD-4.0.0 6.88953E-07
20504 26 P/T 42 None 0.4406 None gnomAD-4.0.0 2.75581E-06
20506 28 P/A 44 rs762173583 0.1513 None gnomAD-2.1.1 4.15E-06
20506 28 P/A 44 rs762173583 0.1513 None gnomAD-4.0.0 4.83581E-06
20507 29 D/G 45 None 0.8165 None gnomAD-4.0.0 1.60609E-06
20507 29 D/H 45 rs777239380 0.8165 None gnomAD-2.1.1 4.13E-06
20507 29 D/H 45 rs777239380 0.8165 None gnomAD-3.1.2 6.58E-06
20507 29 D/H 45 rs777239380 0.8165 None gnomAD-4.0.0 6.57722E-06
20507 29 D/Y 45 None 0.8165 None gnomAD-4.0.0 1.60751E-06
20508 30 I/V 46 None 0.1807 None gnomAD-4.0.0 4.80129E-06
20509 31 T/S 47 None 0.5353 None gnomAD-4.0.0 1.20032E-06
20510 32 W/R 48 None 0.1603 None gnomAD-4.0.0 3.20497E-06
20511 33 T/A 49 None 0.1968 None gnomAD-4.0.0 6.85972E-07
20512 34 K/N 50 None 0.1694 None gnomAD-4.0.0 1.20033E-06
20512 34 K/R 50 rs2049906608 0.1694 None gnomAD-4.0.0 1.60064E-06
20513 35 E/K 51 None 0.7648 None gnomAD-4.0.0 2.40065E-06
20514 36 G/D 52 rs1449445104 0.5098 None gnomAD-2.1.1 4.07E-06
20514 36 G/D 52 rs1449445104 0.5098 None gnomAD-4.0.0 1.5982E-06
20514 36 G/S 52 rs769107925 0.5098 None gnomAD-2.1.1 4.07E-06
20514 36 G/S 52 rs769107925 0.5098 None gnomAD-4.0.0 1.59831E-06
20514 36 G/V 52 rs1449445104 0.5098 None gnomAD-2.1.1 8.14E-06
20514 36 G/V 52 rs1449445104 0.5098 None gnomAD-4.0.0 3.19641E-06
20515 37 K/Q 55 None 0.8642 None gnomAD-4.0.0 1.20032E-06
20517 39 L/M 58 rs1576082826 0.2278 None gnomAD-3.1.2 6.58E-06
20517 39 L/M 58 rs1576082826 0.2278 None gnomAD-4.0.0 6.57678E-06
20517 39 L/S 58 rs1270401889 0.2278 None gnomAD-2.1.1 4.05E-06
20517 39 L/S 58 rs1270401889 0.2278 None gnomAD-4.0.0 1.59519E-06
20518 40 V/I 59 rs1223901169 0.6244 None gnomAD-2.1.1 8.09E-06
20518 40 V/I 59 rs1223901169 0.6244 None gnomAD-4.0.0 4.78536E-06
20519 41 R/Q 70 rs727504191 0.5070 None gnomAD-2.1.1 5.26E-05
20519 41 R/Q 70 rs727504191 0.5070 None gnomAD-3.1.2 1.57845E-04
20519 41 R/Q 70 rs727504191 0.5070 None gnomAD-4.0.0 3.0393E-05
20521 43 K/E 109 rs2049901780 1.0686 None gnomAD-3.1.2 6.58E-06
20521 43 K/E 109 rs2049901780 1.0686 None gnomAD-4.0.0 6.57652E-06
20521 43 K/N 109 None 1.0686 None gnomAD-4.0.0 1.20032E-06
20522 44 R/K 115 rs1204056923 0.3686 None gnomAD-3.1.2 6.58E-06
20522 44 R/K 115 rs1204056923 0.3686 None gnomAD-4.0.0 5.07532E-06
20522 44 R/S 115 rs576946726 0.3686 None gnomAD-2.1.1 1.43E-05
20522 44 R/S 115 rs576946726 0.3686 None gnomAD-3.1.2 6.58E-06
20522 44 R/S 115 rs576946726 0.3686 None gnomAD-4.0.0 2.48004E-06
20523 45 V/G 121 rs1461050183 0.1665 None gnomAD-3.1.2 6.58E-06
20523 45 V/G 121 rs1461050183 0.1665 None gnomAD-4.0.0 7.43992E-06
20523 45 V/M 121 rs2049899591 0.1665 None gnomAD-3.1.2 6.58E-06
20523 45 V/M 121 rs2049899591 0.1665 None gnomAD-4.0.0 6.57687E-06
20524 46 D/G 122 None 0.3845 None gnomAD-4.0.0 1.5926E-06
20525 47 L/F 123 None 0.2447 None gnomAD-4.0.0 1.59262E-06
20526 48 I/S 125 rs1234706508 0.4340 None gnomAD-3.1.2 6.58E-06
20526 48 I/S 125 rs1234706508 0.4340 None gnomAD-4.0.0 1.23984E-06
20526 48 I/T 125 rs1234706508 0.4340 None gnomAD-4.0.0 6.84439E-07
20527 49 Q/K 127 rs2049896999 0.5554 None gnomAD-4.0.0 1.59256E-06
20527 49 Q/R 127 None 0.5554 None gnomAD-4.0.0 3.18499E-06
20528 50 D/E 130 rs374601610 0.7843 None gnomAD-2.1.1 4.03E-06
20528 50 D/E 130 rs374601610 0.7843 None gnomAD-4.0.0 6.84431E-07
20529 51 L/I 131 None 0.4014 None gnomAD-4.0.0 6.84432E-07
20529 51 L/P 131 rs777103102 0.4014 None gnomAD-2.1.1 1.61E-05
20529 51 L/P 131 rs777103102 0.4014 None gnomAD-3.1.2 1.97E-05
20529 51 L/P 131 rs777103102 0.4014 None gnomAD-4.0.0 1.02561E-05
20530 52 P/S 134 rs755700079 0.4757 None gnomAD-2.1.1 4.03E-06
20530 52 P/S 134 rs755700079 0.4757 None gnomAD-4.0.0 4.791E-06
20530 52 P/T 134 rs755700079 0.4757 None gnomAD-2.1.1 2.15E-05
20530 52 P/T 134 rs755700079 0.4757 None gnomAD-3.1.2 3.29E-05
20530 52 P/T 134 rs755700079 0.4757 None gnomAD-4.0.0 7.0671E-05
20531 53 R/C 135 rs748005350 0.5319 None gnomAD-2.1.1 8.06E-06
20531 53 R/C 135 rs748005350 0.5319 None gnomAD-3.1.2 6.58E-06
20531 53 R/C 135 rs748005350 0.5319 None gnomAD-4.0.0 3.09969E-06
20531 53 R/H 135 rs370887455 0.5319 None gnomAD-2.1.1 1.79E-05
20531 53 R/H 135 rs370887455 0.5319 None gnomAD-3.1.2 1.32E-05
20531 53 R/H 135 rs370887455 0.5319 None gnomAD-4.0.0 2.54167E-05
20531 53 R/L 135 rs370887455 0.5319 None gnomAD-2.1.1 8.06E-06
20531 53 R/L 135 rs370887455 0.5319 None gnomAD-3.1.2 6.58E-06
20531 53 R/L 135 rs370887455 0.5319 None gnomAD-4.0.0 2.47968E-06
20533 55 E/K 137 rs970448292 0.1881 None gnomAD-2.1.1 4.03E-06
20533 55 E/K 137 rs970448292 0.1881 None gnomAD-3.1.2 6.58E-06
20533 55 E/K 137 rs970448292 0.1881 None gnomAD-4.0.0 1.23986E-06
20533 55 E/Q 137 rs970448292 0.1881 None gnomAD-4.0.0 1.36886E-06
20537 59 K/E 141 None 0.4197 None gnomAD-4.0.0 3.1848E-06
20539 61 A/G 144 None 0.0925 None gnomAD-4.0.0 1.5924E-06
20539 61 A/T 144 rs754756569 0.0925 None gnomAD-2.1.1 4.03E-06
20539 61 A/T 144 rs754756569 0.0925 None gnomAD-4.0.0 3.18485E-06
20540 62 V/G 145 None 0.3409 None gnomAD-4.0.0 4.80129E-06
20540 62 V/I 145 None 0.3409 None gnomAD-4.0.0 1.20032E-06
20542 64 A/G 148 rs373529637 0.4484 None gnomAD-2.1.1 1.61E-05
20542 64 A/G 148 rs373529637 0.4484 None gnomAD-3.1.2 7.24E-05
20542 64 A/G 148 rs373529637 0.4484 None gnomAD-4.0.0 9.29896E-06
20542 64 A/V 148 rs373529637 0.4484 None gnomAD-2.1.1 4.03E-06
20542 64 A/V 148 rs373529637 0.4484 None gnomAD-4.0.0 2.0533E-06
20543 65 D/N 149 None 0.1731 None gnomAD-4.0.0 1.36888E-06
20544 66 H/L 151 None 0.4528 None gnomAD-4.0.0 6.84426E-07
20544 66 H/R 151 rs876658073 0.4528 None gnomAD-2.1.1 3.19E-05
20544 66 H/R 151 rs876658073 0.4528 None gnomAD-4.0.0 2.7377E-06
20545 67 G/S 152 None 0.2004 None gnomAD-4.0.0 1.20033E-06
20547 69 Y/S 154 None 0.1302 None gnomAD-4.0.0 1.20033E-06
20548 70 I/T 155 None 0.2849 None gnomAD-4.0.0 1.36887E-06
20548 70 I/V 155 None 0.2849 None gnomAD-4.0.0 1.59248E-06
20549 71 I/F 156 rs750680415 0.0920 None gnomAD-4.0.0 1.36896E-06
20549 71 I/M 156 None 0.0920 None gnomAD-4.0.0 6.8445E-07
20549 71 I/T 156 None 0.0920 None gnomAD-4.0.0 1.36889E-06
20549 71 I/V 156 rs750680415 0.0920 None gnomAD-2.1.1 8.07E-06
20549 71 I/V 156 rs750680415 0.0920 None gnomAD-3.1.2 1.32E-05
20549 71 I/V 156 rs750680415 0.0920 None gnomAD-4.0.0 1.85984E-06
20550 72 S/L 157 rs2049883330 0.1948 None gnomAD-3.1.2 6.58E-06
20550 72 S/L 157 rs2049883330 0.1948 None gnomAD-4.0.0 6.57704E-06
20551 73 A/P 158 rs765205726 0.0911 None gnomAD-2.1.1 4.03E-06
20551 73 A/P 158 rs765205726 0.0911 None gnomAD-4.0.0 3.1853E-06
20551 73 A/T 158 None 0.0911 None gnomAD-4.0.0 1.59265E-06
20553 75 N/I 161 None 0.1109 None gnomAD-4.0.0 1.59256E-06
20553 75 N/K 161 rs1009639599 0.1109 None gnomAD-2.1.1 4.03E-06
20553 75 N/K 161 rs1009639599 0.1109 None gnomAD-4.0.0 6.8445E-07
20555 77 S/N 163 rs1559577387 0.2584 None gnomAD-4.0.0 2.40064E-06
20556 78 G/E 164 rs1199461867 0.2159 None gnomAD-2.1.1 4.03E-06
20556 78 G/E 164 rs1199461867 0.2159 None gnomAD-4.0.0 3.18535E-06
20557 79 H/D 165 rs1440800435 0.4780 None gnomAD-3.1.2 6.58E-06
20557 79 H/D 165 rs1440800435 0.4780 None gnomAD-4.0.0 6.57644E-06
20557 79 H/R 165 rs1472565206 0.4780 None gnomAD-2.1.1 4.03E-06
20557 79 H/R 165 rs1472565206 0.4780 None gnomAD-4.0.0 1.36894E-06
20557 79 H/Y 165 rs1440800435 0.4780 None gnomAD-3.1.2 6.58E-06
20557 79 H/Y 165 rs1440800435 0.4780 None gnomAD-4.0.0 6.57644E-06
20558 80 A/V 166 None 0.1496 None gnomAD-4.0.0 1.59271E-06
20560 82 G/A 169 rs754293456 0.2204 None gnomAD-2.1.1 5.25E-05
20560 82 G/A 169 rs754293456 0.2204 None gnomAD-4.0.0 2.12192E-05
20560 82 G/D 169 None 0.2204 None gnomAD-2.1.1 4.03E-06
20560 82 G/D 169 None 0.2204 None gnomAD-4.0.0 2.73796E-06
20560 82 G/V 169 rs754293456 0.2204 None gnomAD-2.1.1 7.16E-06
20560 82 G/V 169 rs754293456 0.2204 None gnomAD-4.0.0 6.84489E-07
20563 85 I/M 173 None 0.4932 None gnomAD-4.0.0 6.8451E-07
20563 85 I/V 173 rs1278288633 0.4932 None gnomAD-2.1.1 4.03E-06
20563 85 I/V 173 rs1278288633 0.4932 None gnomAD-4.0.0 1.59279E-06
20564 86 V/I 174 rs761270633 0.1056 None gnomAD-2.1.1 1.61E-05
20564 86 V/I 174 rs761270633 0.1056 None gnomAD-3.1.2 6.58E-06
20564 86 V/I 174 rs761270633 0.1056 None gnomAD-4.0.0 7.43964E-06
20565 87 N/K 175 None 0.3869 None gnomAD-4.0.0 6.84484E-07
20566 88 V/I 177 rs764777213 0.1085 None gnomAD-2.1.1 7.52E-05
20566 88 V/I 177 rs764777213 0.1085 None gnomAD-3.1.2 4.6E-05
20566 88 V/I 177 rs764777213 0.1085 None gnomAD-4.0.0 6.9435E-05