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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
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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20479 1 D/N 1 rs773754692 0.3314 None gnomAD-2.1.1 4.69E-06
20479 1 D/N 1 rs773754692 0.3314 None gnomAD-4.0.0 1.7074E-06
20480 2 V/F 2 rs1043320696 0.6305 None gnomAD-3.1.2 6.58E-06
20480 2 V/F 2 rs1043320696 0.6305 None gnomAD-4.0.0 1.91008E-06
20480 2 V/I 2 None 0.6305 None gnomAD-4.0.0 1.40984E-06
20481 3 T/S 3 None 0.6316 None gnomAD-4.0.0 1.20032E-06
20482 4 C/R 4 None 0.1596 None gnomAD-4.0.0 4.93422E-06
20482 4 C/Y 4 rs1457364268 0.1596 None gnomAD-2.1.1 4.71E-06
20483 5 R/C 5 rs770139489 0.5537 None gnomAD-2.1.1 1.62E-05
20483 5 R/C 5 rs770139489 0.5537 None gnomAD-3.1.2 2.63E-05
20483 5 R/C 5 rs770139489 0.5537 None gnomAD-4.0.0 6.99394E-06
20483 5 R/H 5 rs748693257 0.5537 None gnomAD-2.1.1 9.29E-06
20483 5 R/H 5 rs748693257 0.5537 None gnomAD-3.1.2 6.58E-06
20483 5 R/H 5 rs748693257 0.5537 None gnomAD-4.0.0 2.41634E-05
20483 5 R/L 5 rs748693257 0.5537 None gnomAD-4.0.0 7.03911E-07
20484 6 D/H 10 None 0.9290 None gnomAD-4.0.0 1.40687E-06
20484 6 D/Y 10 None 0.9290 None gnomAD-4.0.0 7.03433E-07
20488 10 V/A 16 rs778745953 0.1645 None gnomAD-2.1.1 4.58E-06
20488 10 V/A 16 rs778745953 0.1645 None gnomAD-3.1.2 6.58E-06
20488 10 V/A 16 rs778745953 0.1645 None gnomAD-4.0.0 2.6823E-06
20488 10 V/L 16 None 0.1645 None gnomAD-4.0.0 7.00948E-07
20488 10 V/M 16 rs77957535 0.1645 None gnomAD-2.1.1 2.74E-05
20488 10 V/M 16 rs77957535 0.1645 None gnomAD-3.1.2 2.63E-05
20488 10 V/M 16 rs77957535 0.1645 None gnomAD-4.0.0 1.39352E-05
20489 11 R/K 18 rs562641765 0.7211 None gnomAD-2.1.1 1.82E-05
20489 11 R/K 18 rs562641765 0.7211 None gnomAD-3.1.2 2.63E-05
20489 11 R/K 18 rs562641765 0.7211 None 1000 genomes 3.99361E-04
20489 11 R/K 18 rs562641765 0.7211 None gnomAD-4.0.0 6.32606E-06
20490 12 V/A 23 None 0.4524 None gnomAD-4.0.0 3.49814E-06
20490 12 V/I 23 rs777345561 0.4524 None gnomAD-2.1.1 4.53E-06
20490 12 V/I 23 rs777345561 0.4524 None gnomAD-4.0.0 1.39927E-06
20491 13 G/A 24 None 0.3126 None gnomAD-4.0.0 6.98714E-07
20491 13 G/R 24 None 0.3126 None gnomAD-4.0.0 6.98643E-07
20491 13 G/S 24 rs1341970631 0.3126 None gnomAD-2.1.1 4.49E-06
20491 13 G/S 24 rs1341970631 0.3126 None gnomAD-4.0.0 6.98643E-07
20492 14 Q/K 25 rs2154184267 0.4158 None gnomAD-3.1.2 6.58E-06
20492 14 Q/K 25 rs2154184267 0.4158 None gnomAD-4.0.0 3.15482E-06
20494 16 I/L 28 None 0.1313 None gnomAD-4.0.0 6.97205E-07
20494 16 I/T 28 rs374845737 0.1313 None gnomAD-2.1.1 2.21E-05
20494 16 I/T 28 rs374845737 0.1313 None gnomAD-3.1.2 3.95E-05
20494 16 I/T 28 rs374845737 0.1313 None gnomAD-4.0.0 1.58831E-05
20494 16 I/V 28 None 0.1313 None gnomAD-4.0.0 1.39441E-06
20495 17 R/C 29 rs370128504 0.6107 None gnomAD-2.1.1 1.77E-05
20495 17 R/C 29 rs370128504 0.6107 None gnomAD-3.1.2 2.63E-05
20495 17 R/C 29 rs370128504 0.6107 None gnomAD-4.0.0 2.5809E-05
20495 17 R/G 29 rs370128504 0.6107 None gnomAD-2.1.1 3.09E-05
20495 17 R/G 29 rs370128504 0.6107 None gnomAD-4.0.0 5.56867E-06
20495 17 R/H 29 rs775137607 0.6107 None gnomAD-2.1.1 5.81E-05
20495 17 R/H 29 rs775137607 0.6107 None gnomAD-3.1.2 1.11849E-04
20495 17 R/H 29 rs775137607 0.6107 None gnomAD-4.0.0 5.16057E-05
20495 17 R/L 29 rs775137607 0.6107 None gnomAD-2.1.1 8.82E-06
20495 17 R/L 29 rs775137607 0.6107 None gnomAD-4.0.0 2.78362E-06
20496 18 I/F 30 None 0.1318 None gnomAD-4.0.0 1.65244E-06
20496 18 I/M 30 rs886042497 0.1318 None gnomAD-3.1.2 6.58E-06
20496 18 I/M 30 rs886042497 0.1318 None gnomAD-4.0.0 7.54018E-06
20497 19 L/P 31 None 0.2913 None gnomAD-4.0.0 2.08202E-06
20497 19 L/V 31 rs1323115557 0.2913 None gnomAD-2.1.1 4.36E-06
20497 19 L/V 31 rs1323115557 0.2913 None gnomAD-4.0.0 1.64792E-06
20498 20 A/V 33 rs145131899 0.1037 None gnomAD-2.1.1 1.74E-05
20498 20 A/V 33 rs145131899 0.1037 None gnomAD-3.1.2 6.58E-06
20498 20 A/V 33 rs145131899 0.1037 None 1000 genomes 1.99681E-04
20498 20 A/V 33 rs145131899 0.1037 None gnomAD-4.0.0 3.94527E-06
20499 21 R/Q 34 rs201286988 0.5285 None gnomAD-2.1.1 3.03E-05
20499 21 R/Q 34 rs201286988 0.5285 None gnomAD-4.0.0 3.11903E-05
20500 22 V/L 35 None 0.1370 None gnomAD-4.0.0 1.63546E-06
20502 24 G/R 40 rs773099372 0.1835 None gnomAD-2.1.1 2.98E-05
20502 24 G/R 40 rs773099372 0.1835 None gnomAD-3.1.2 6.58E-06
20502 24 G/R 40 rs773099372 0.1835 None gnomAD-4.0.0 2.2189E-05
20502 24 G/S 40 None 0.1835 None gnomAD-4.0.0 1.6282E-06
20504 26 P/A 42 rs765388232 0.4470 None gnomAD-2.1.1 4.18E-06
20504 26 P/A 42 rs765388232 0.4470 None gnomAD-4.0.0 6.88953E-07
20504 26 P/S 42 rs765388232 0.4470 None gnomAD-2.1.1 4.18E-06
20504 26 P/S 42 rs765388232 0.4470 None gnomAD-4.0.0 6.88953E-07
20504 26 P/T 42 None 0.4470 None gnomAD-4.0.0 2.75581E-06
20506 28 P/A 44 rs762173583 0.1461 None gnomAD-2.1.1 4.15E-06
20506 28 P/A 44 rs762173583 0.1461 None gnomAD-4.0.0 4.83581E-06
20507 29 D/G 45 None 0.7630 None gnomAD-4.0.0 1.60609E-06
20507 29 D/H 45 rs777239380 0.7630 None gnomAD-2.1.1 4.13E-06
20507 29 D/H 45 rs777239380 0.7630 None gnomAD-3.1.2 6.58E-06
20507 29 D/H 45 rs777239380 0.7630 None gnomAD-4.0.0 6.57722E-06
20507 29 D/Y 45 None 0.7630 None gnomAD-4.0.0 1.60751E-06
20508 30 I/V 46 None 0.1901 None gnomAD-4.0.0 4.80129E-06
20509 31 T/S 47 None 0.4250 None gnomAD-4.0.0 1.20032E-06
20510 32 W/R 48 None 0.1576 None gnomAD-4.0.0 3.20497E-06
20511 33 T/A 49 None 0.2099 None gnomAD-4.0.0 6.85972E-07
20512 34 K/N 50 None 0.1393 None gnomAD-4.0.0 1.20033E-06
20512 34 K/R 50 rs2049906608 0.1393 None gnomAD-4.0.0 1.60064E-06
20513 35 E/K 51 None 0.6487 None gnomAD-4.0.0 2.40065E-06
20514 36 G/D 52 rs1449445104 0.5271 None gnomAD-2.1.1 4.07E-06
20514 36 G/D 52 rs1449445104 0.5271 None gnomAD-4.0.0 1.5982E-06
20514 36 G/S 52 rs769107925 0.5271 None gnomAD-2.1.1 4.07E-06
20514 36 G/S 52 rs769107925 0.5271 None gnomAD-4.0.0 1.59831E-06
20514 36 G/V 52 rs1449445104 0.5271 None gnomAD-2.1.1 8.14E-06
20514 36 G/V 52 rs1449445104 0.5271 None gnomAD-4.0.0 3.19641E-06
20515 37 K/Q 55 None 0.8218 None gnomAD-4.0.0 1.20032E-06
20517 39 L/M 58 rs1576082826 0.2550 None gnomAD-3.1.2 6.58E-06
20517 39 L/M 58 rs1576082826 0.2550 None gnomAD-4.0.0 6.57678E-06
20517 39 L/S 58 rs1270401889 0.2550 None gnomAD-2.1.1 4.05E-06
20517 39 L/S 58 rs1270401889 0.2550 None gnomAD-4.0.0 1.59519E-06
20518 40 V/I 59 rs1223901169 0.6101 None gnomAD-2.1.1 8.09E-06
20518 40 V/I 59 rs1223901169 0.6101 None gnomAD-4.0.0 4.78536E-06
20519 41 R/Q 70 rs727504191 0.6316 None gnomAD-2.1.1 5.26E-05
20519 41 R/Q 70 rs727504191 0.6316 None gnomAD-3.1.2 1.57845E-04
20519 41 R/Q 70 rs727504191 0.6316 None gnomAD-4.0.0 3.0393E-05
20521 43 K/E 109 rs2049901780 1.0400 None gnomAD-3.1.2 6.58E-06
20521 43 K/E 109 rs2049901780 1.0400 None gnomAD-4.0.0 6.57652E-06
20521 43 K/N 109 None 1.0400 None gnomAD-4.0.0 1.20032E-06
20522 44 R/K 115 rs1204056923 0.3020 None gnomAD-3.1.2 6.58E-06
20522 44 R/K 115 rs1204056923 0.3020 None gnomAD-4.0.0 5.07532E-06
20522 44 R/S 115 rs576946726 0.3020 None gnomAD-2.1.1 1.43E-05
20522 44 R/S 115 rs576946726 0.3020 None gnomAD-3.1.2 6.58E-06
20522 44 R/S 115 rs576946726 0.3020 None gnomAD-4.0.0 2.48004E-06
20523 45 V/G 121 rs1461050183 0.1572 None gnomAD-3.1.2 6.58E-06
20523 45 V/G 121 rs1461050183 0.1572 None gnomAD-4.0.0 7.43992E-06
20523 45 V/M 121 rs2049899591 0.1572 None gnomAD-3.1.2 6.58E-06
20523 45 V/M 121 rs2049899591 0.1572 None gnomAD-4.0.0 6.57687E-06
20524 46 D/G 122 None 0.3976 None gnomAD-4.0.0 1.5926E-06
20525 47 L/F 123 None 0.3015 None gnomAD-4.0.0 1.59262E-06
20526 48 I/S 125 rs1234706508 0.4763 None gnomAD-3.1.2 6.58E-06
20526 48 I/S 125 rs1234706508 0.4763 None gnomAD-4.0.0 1.23984E-06
20526 48 I/T 125 rs1234706508 0.4763 None gnomAD-4.0.0 6.84439E-07
20527 49 Q/K 127 rs2049896999 0.5515 None gnomAD-4.0.0 1.59256E-06
20527 49 Q/R 127 None 0.5515 None gnomAD-4.0.0 3.18499E-06
20528 50 D/E 130 rs374601610 0.7864 None gnomAD-2.1.1 4.03E-06
20528 50 D/E 130 rs374601610 0.7864 None gnomAD-4.0.0 6.84431E-07
20529 51 L/I 131 None 0.3979 None gnomAD-4.0.0 6.84432E-07
20529 51 L/P 131 rs777103102 0.3979 None gnomAD-2.1.1 1.61E-05
20529 51 L/P 131 rs777103102 0.3979 None gnomAD-3.1.2 1.97E-05
20529 51 L/P 131 rs777103102 0.3979 None gnomAD-4.0.0 1.02561E-05
20530 52 P/S 134 rs755700079 0.4770 None gnomAD-2.1.1 4.03E-06
20530 52 P/S 134 rs755700079 0.4770 None gnomAD-4.0.0 4.791E-06
20530 52 P/T 134 rs755700079 0.4770 None gnomAD-2.1.1 2.15E-05
20530 52 P/T 134 rs755700079 0.4770 None gnomAD-3.1.2 3.29E-05
20530 52 P/T 134 rs755700079 0.4770 None gnomAD-4.0.0 7.0671E-05
20531 53 R/C 135 rs748005350 0.4432 None gnomAD-2.1.1 8.06E-06
20531 53 R/C 135 rs748005350 0.4432 None gnomAD-3.1.2 6.58E-06
20531 53 R/C 135 rs748005350 0.4432 None gnomAD-4.0.0 3.09969E-06
20531 53 R/H 135 rs370887455 0.4432 None gnomAD-2.1.1 1.79E-05
20531 53 R/H 135 rs370887455 0.4432 None gnomAD-3.1.2 1.32E-05
20531 53 R/H 135 rs370887455 0.4432 None gnomAD-4.0.0 2.54167E-05
20531 53 R/L 135 rs370887455 0.4432 None gnomAD-2.1.1 8.06E-06
20531 53 R/L 135 rs370887455 0.4432 None gnomAD-3.1.2 6.58E-06
20531 53 R/L 135 rs370887455 0.4432 None gnomAD-4.0.0 2.47968E-06
20533 55 E/K 137 rs970448292 0.2210 None gnomAD-2.1.1 4.03E-06
20533 55 E/K 137 rs970448292 0.2210 None gnomAD-3.1.2 6.58E-06
20533 55 E/K 137 rs970448292 0.2210 None gnomAD-4.0.0 1.23986E-06
20533 55 E/Q 137 rs970448292 0.2210 None gnomAD-4.0.0 1.36886E-06
20537 59 K/E 141 None 0.4350 None gnomAD-4.0.0 3.1848E-06
20539 61 A/G 144 None 0.0899 None gnomAD-4.0.0 1.5924E-06
20539 61 A/T 144 rs754756569 0.0899 None gnomAD-2.1.1 4.03E-06
20539 61 A/T 144 rs754756569 0.0899 None gnomAD-4.0.0 3.18485E-06
20540 62 V/G 145 None 0.3076 None gnomAD-4.0.0 4.80129E-06
20540 62 V/I 145 None 0.3076 None gnomAD-4.0.0 1.20032E-06
20542 64 A/G 148 rs373529637 0.4538 None gnomAD-2.1.1 1.61E-05
20542 64 A/G 148 rs373529637 0.4538 None gnomAD-3.1.2 7.24E-05
20542 64 A/G 148 rs373529637 0.4538 None gnomAD-4.0.0 9.29896E-06
20542 64 A/V 148 rs373529637 0.4538 None gnomAD-2.1.1 4.03E-06
20542 64 A/V 148 rs373529637 0.4538 None gnomAD-4.0.0 2.0533E-06
20543 65 D/N 149 None 0.1725 None gnomAD-4.0.0 1.36888E-06
20544 66 H/L 151 None 0.3940 None gnomAD-4.0.0 6.84426E-07
20544 66 H/R 151 rs876658073 0.3940 None gnomAD-2.1.1 3.19E-05
20544 66 H/R 151 rs876658073 0.3940 None gnomAD-4.0.0 2.7377E-06
20545 67 G/S 152 None 0.1838 None gnomAD-4.0.0 1.20033E-06
20547 69 Y/S 154 None 0.1389 None gnomAD-4.0.0 1.20033E-06
20548 70 I/T 155 None 0.2723 None gnomAD-4.0.0 1.36887E-06
20548 70 I/V 155 None 0.2723 None gnomAD-4.0.0 1.59248E-06
20549 71 I/F 156 rs750680415 0.0968 None gnomAD-4.0.0 1.36896E-06
20549 71 I/M 156 None 0.0968 None gnomAD-4.0.0 6.8445E-07
20549 71 I/T 156 None 0.0968 None gnomAD-4.0.0 1.36889E-06
20549 71 I/V 156 rs750680415 0.0968 None gnomAD-2.1.1 8.07E-06
20549 71 I/V 156 rs750680415 0.0968 None gnomAD-3.1.2 1.32E-05
20549 71 I/V 156 rs750680415 0.0968 None gnomAD-4.0.0 1.85984E-06
20550 72 S/L 157 rs2049883330 0.2068 None gnomAD-3.1.2 6.58E-06
20550 72 S/L 157 rs2049883330 0.2068 None gnomAD-4.0.0 6.57704E-06
20551 73 A/P 158 rs765205726 0.0840 None gnomAD-2.1.1 4.03E-06
20551 73 A/P 158 rs765205726 0.0840 None gnomAD-4.0.0 3.1853E-06
20551 73 A/T 158 None 0.0840 None gnomAD-4.0.0 1.59265E-06
20553 75 N/I 161 None 0.1151 None gnomAD-4.0.0 1.59256E-06
20553 75 N/K 161 rs1009639599 0.1151 None gnomAD-2.1.1 4.03E-06
20553 75 N/K 161 rs1009639599 0.1151 None gnomAD-4.0.0 6.8445E-07
20555 77 S/N 163 rs1559577387 0.2672 None gnomAD-4.0.0 2.40064E-06
20556 78 G/E 164 rs1199461867 0.2327 None gnomAD-2.1.1 4.03E-06
20556 78 G/E 164 rs1199461867 0.2327 None gnomAD-4.0.0 3.18535E-06
20557 79 H/D 165 rs1440800435 0.4823 None gnomAD-3.1.2 6.58E-06
20557 79 H/D 165 rs1440800435 0.4823 None gnomAD-4.0.0 6.57644E-06
20557 79 H/R 165 rs1472565206 0.4823 None gnomAD-2.1.1 4.03E-06
20557 79 H/R 165 rs1472565206 0.4823 None gnomAD-4.0.0 1.36894E-06
20557 79 H/Y 165 rs1440800435 0.4823 None gnomAD-3.1.2 6.58E-06
20557 79 H/Y 165 rs1440800435 0.4823 None gnomAD-4.0.0 6.57644E-06
20558 80 A/V 166 None 0.1576 None gnomAD-4.0.0 1.59271E-06
20560 82 G/A 169 rs754293456 0.2144 None gnomAD-2.1.1 5.25E-05
20560 82 G/A 169 rs754293456 0.2144 None gnomAD-4.0.0 2.12192E-05
20560 82 G/D 169 None 0.2144 None gnomAD-2.1.1 4.03E-06
20560 82 G/D 169 None 0.2144 None gnomAD-4.0.0 2.73796E-06
20560 82 G/V 169 rs754293456 0.2144 None gnomAD-2.1.1 7.16E-06
20560 82 G/V 169 rs754293456 0.2144 None gnomAD-4.0.0 6.84489E-07
20563 85 I/M 173 None 0.5082 None gnomAD-4.0.0 6.8451E-07
20563 85 I/V 173 rs1278288633 0.5082 None gnomAD-2.1.1 4.03E-06
20563 85 I/V 173 rs1278288633 0.5082 None gnomAD-4.0.0 1.59279E-06
20564 86 V/I 174 rs761270633 0.1126 None gnomAD-2.1.1 1.61E-05
20564 86 V/I 174 rs761270633 0.1126 None gnomAD-3.1.2 6.58E-06
20564 86 V/I 174 rs761270633 0.1126 None gnomAD-4.0.0 7.43964E-06
20565 87 N/K 175 None 0.3893 None gnomAD-4.0.0 6.84484E-07
20566 88 V/I 177 rs764777213 0.1160 None gnomAD-2.1.1 7.52E-05
20566 88 V/I 177 rs764777213 0.1160 None gnomAD-3.1.2 4.6E-05
20566 88 V/I 177 rs764777213 0.1160 None gnomAD-4.0.0 6.9435E-05