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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14408 1 L/I 1 rs767777694 0.1100 None gnomAD-2.1.1 4.04E-06
14409 2 I/M 2 rs1427373218 0.4250 None gnomAD-2.1.1 1.21E-05
14409 2 I/M 2 rs1427373218 0.4250 None gnomAD-4.0.0 2.7383E-06
14410 3 F/L 3 rs759684544 0.1008 None gnomAD-2.1.1 4.04E-06
14410 3 F/L 3 rs759684544 0.1008 None gnomAD-3.1.2 1.31E-05
14410 3 F/L 3 rs759684544 0.1008 None gnomAD-4.0.0 5.12985E-06
14411 4 I/F 4 None 0.2241 None gnomAD-4.0.0 6.84539E-07
14411 4 I/L 4 rs1246262420 0.2241 None gnomAD-2.1.1 3.19E-05
14411 4 I/V 4 None 0.2241 None gnomAD-4.0.0 5.47631E-06
14412 5 T/A 5 rs185007509 0.2497 None gnomAD-3.1.2 6.58E-06
14412 5 T/A 5 rs185007509 0.2497 None 1000 genomes 1.99681E-04
14412 5 T/A 5 rs185007509 0.2497 None gnomAD-4.0.0 2.56442E-06
14413 6 P/L 7 rs548964329 0.4260 None gnomAD-3.1.2 6.58E-06
14413 6 P/L 7 rs548964329 0.4260 None 1000 genomes 1.99681E-04
14413 6 P/L 7 rs548964329 0.4260 None gnomAD-4.0.0 6.57013E-06
14413 6 P/S 7 rs2059959828 0.4260 None gnomAD-4.0.0 1.59319E-06
14414 7 L/I 8 None 0.1522 None gnomAD-4.0.0 6.8455E-07
14414 7 L/V 8 rs2059958801 0.1522 None gnomAD-4.0.0 3.42275E-06
14415 8 S/N 9 rs370342831 0.5344 None gnomAD-2.1.1 5.38E-05
14415 8 S/N 9 rs370342831 0.5344 None gnomAD-3.1.2 1.0523E-04
14415 8 S/N 9 rs370342831 0.5344 None gnomAD-4.0.0 2.85197E-05
14415 8 S/R 9 rs770940545 0.5344 None gnomAD-2.1.1 4.04E-06
14415 8 S/R 9 rs770940545 0.5344 None gnomAD-4.0.0 1.59299E-06
14415 8 S/T 9 None 0.5344 None gnomAD-4.0.0 6.84522E-07
14416 9 D/V 11 None 0.6845 None gnomAD-4.0.0 1.20032E-06
14417 10 V/I 13 rs906675886 0.2573 None gnomAD-2.1.1 8.08E-06
14417 10 V/I 13 rs906675886 0.2573 None gnomAD-4.0.0 1.02676E-05
14419 12 V/A 16 None 0.2596 None gnomAD-4.0.0 1.59267E-06
14419 12 V/I 16 rs529018517 0.2596 None gnomAD-2.1.1 1.79211E-04
14419 12 V/I 16 rs529018517 0.2596 None gnomAD-3.1.2 9.21E-05
14419 12 V/I 16 rs529018517 0.2596 None 1000 genomes 5.99042E-04
14419 12 V/I 16 rs529018517 0.2596 None gnomAD-4.0.0 1.04764E-04
14420 13 F/L 18 None 0.7717 None gnomAD-4.0.0 1.36896E-06
14421 14 E/K 23 rs748507741 0.2780 None gnomAD-2.1.1 2.83E-05
14421 14 E/K 23 rs748507741 0.2780 None gnomAD-4.0.0 1.77963E-05
14422 15 K/E 24 rs1576692871 0.7106 None gnomAD-4.0.0 1.59251E-06
14423 16 D/E 25 None 0.3972 None gnomAD-4.0.0 6.00357E-06
14423 16 D/G 25 rs1251576869 0.3972 None gnomAD-2.1.1 4.04E-06
14423 16 D/G 25 rs1251576869 0.3972 None gnomAD-4.0.0 1.59244E-06
14423 16 D/H 25 rs960364848 0.3972 None gnomAD-2.1.1 4.04E-06
14423 16 D/H 25 rs960364848 0.3972 None gnomAD-4.0.0 1.59249E-06
14425 18 A/S 28 None 0.1507 None gnomAD-4.0.0 1.59237E-06
14425 18 A/T 28 None 0.1507 None gnomAD-4.0.0 1.59237E-06
14426 19 K/E 29 rs557077441 0.2955 None gnomAD-2.1.1 2.42E-05
14426 19 K/E 29 rs557077441 0.2955 None gnomAD-3.1.2 6.58E-06
14426 19 K/E 29 rs557077441 0.2955 None 1000 genomes 1.99681E-04
14426 19 K/E 29 rs557077441 0.2955 None gnomAD-4.0.0 5.57856E-06
14428 21 E/D 31 rs1261167534 0.3133 None gnomAD-2.1.1 4.04E-06
14428 21 E/D 31 rs1261167534 0.3133 None gnomAD-3.1.2 6.58E-06
14428 21 E/D 31 rs1261167534 0.3133 None gnomAD-4.0.0 1.42569E-05
14429 22 C/Y 33 rs2059953559 0.0659 None gnomAD-3.1.2 6.58E-06
14429 22 C/Y 33 rs2059953559 0.0659 None gnomAD-4.0.0 6.57056E-06
14430 23 E/D 34 rs531051064 0.2850 None gnomAD-2.1.1 6.46E-05
14430 23 E/D 34 rs531051064 0.2850 None gnomAD-3.1.2 1.97E-05
14430 23 E/D 34 rs531051064 0.2850 None 1000 genomes 1.99681E-04
14430 23 E/D 34 rs531051064 0.2850 None gnomAD-4.0.0 1.85941E-05
14430 23 E/G 34 None 0.2850 None gnomAD-4.0.0 1.59215E-06
14432 25 S/F 38 rs1204829254 0.3320 None gnomAD-2.1.1 3.19E-05
14432 25 S/F 38 rs1204829254 0.3320 None gnomAD-3.1.2 6.58E-06
14432 25 S/F 38 rs1204829254 0.3320 None gnomAD-4.0.0 6.57981E-06
14433 26 R/K 40 rs914023000 0.3406 None gnomAD-2.1.1 8.08E-06
14433 26 R/K 40 rs914023000 0.3406 None gnomAD-4.0.0 5.47495E-06
14434 27 E/D 41 None 0.3466 None gnomAD-4.0.0 1.20032E-06
14434 27 E/K 41 None 0.3466 None gnomAD-4.0.0 1.20032E-06
14435 28 P/A 42 None 0.6140 None gnomAD-4.0.0 6.84374E-07
14435 28 P/L 42 rs2059952331 0.6140 None gnomAD-4.0.0 6.36857E-06
14436 29 K/E 44 rs2059951786 0.2972 None gnomAD-3.1.2 6.58E-06
14436 29 K/E 44 rs2059951786 0.2972 None gnomAD-4.0.0 6.57566E-06
14436 29 K/N 44 rs756686533 0.2972 None gnomAD-2.1.1 4.04E-06
14439 32 R/C 47 rs200914097 0.3693 None gnomAD-2.1.1 5.02E-05
14439 32 R/C 47 rs200914097 0.3693 None gnomAD-3.1.2 1.57936E-04
14439 32 R/C 47 rs200914097 0.3693 None gnomAD-4.0.0 3.16147E-05
14439 32 R/H 47 rs764117439 0.3693 None gnomAD-2.1.1 1.79E-05
14439 32 R/H 47 rs764117439 0.3693 None gnomAD-3.1.2 2.63E-05
14439 32 R/H 47 rs764117439 0.3693 None gnomAD-4.0.0 1.05378E-05
14439 32 R/L 47 rs764117439 0.3693 None gnomAD-4.0.0 6.84359E-07
14443 36 G/R 51 rs1470566986 0.3816 None gnomAD-2.1.1 8.08E-06
14443 36 G/R 51 rs1470566986 0.3816 None gnomAD-4.0.0 3.18398E-06
14444 37 T/N 52 rs1411904036 0.6988 None gnomAD-2.1.1 3.19E-05
14444 37 T/N 52 rs1411904036 0.6988 None gnomAD-3.1.2 6.58E-06
14446 39 E/D 56 rs766663791 0.4764 None gnomAD-2.1.1 4.04E-06
14446 39 E/D 56 rs766663791 0.4764 None gnomAD-4.0.0 7.20193E-06
14446 39 E/K 56 rs774470098 0.4764 None gnomAD-2.1.1 1.21E-05
14446 39 E/K 56 rs774470098 0.4764 None gnomAD-4.0.0 2.73732E-06
14447 40 I/V 58 rs762998380 0.1480 None gnomAD-2.1.1 4.04E-06
14448 41 T/A 59 rs773346487 0.6059 None gnomAD-2.1.1 4.04E-06
14448 41 T/A 59 rs773346487 0.6059 None gnomAD-4.0.0 1.59188E-06
14448 41 T/I 59 rs545318911 0.6059 None gnomAD-2.1.1 2.02E-05
14448 41 T/I 59 rs545318911 0.6059 None gnomAD-3.1.2 6.58E-06
14448 41 T/I 59 rs545318911 0.6059 None 1000 genomes 1.99681E-04
14448 41 T/I 59 rs545318911 0.6059 None gnomAD-4.0.0 6.40782E-06
14448 41 T/R 59 rs545318911 0.6059 None gnomAD-2.1.1 4.04E-06
14448 41 T/R 59 rs545318911 0.6059 None gnomAD-3.1.2 6.58E-06
14448 41 T/R 59 rs545318911 0.6059 None gnomAD-4.0.0 6.57869E-06
14449 42 G/D 70 rs1461692009 0.4123 None gnomAD-2.1.1 4.04E-06
14449 42 G/D 70 rs1461692009 0.4123 None gnomAD-4.0.0 3.18383E-06
14449 42 G/R 70 rs1485328319 0.4123 None gnomAD-3.1.2 6.58E-06
14449 42 G/R 70 rs1485328319 0.4123 None gnomAD-4.0.0 1.2397E-06
14449 42 G/S 70 rs1485328319 0.4123 None gnomAD-4.0.0 1.36866E-06
14451 44 D/N 111 rs768931150 0.7052 None gnomAD-2.1.1 4.03E-06
14451 44 D/N 111 rs768931150 0.7052 None gnomAD-4.0.0 3.42159E-06
14452 45 R/G 115 rs367791276 0.4069 None gnomAD-2.1.1 4.04E-06
14452 45 R/G 115 rs367791276 0.4069 None gnomAD-3.1.2 6.58E-06
14452 45 R/G 115 rs367791276 0.4069 None gnomAD-4.0.0 6.57514E-06
14452 45 R/I 115 rs528741819 0.4069 None gnomAD-3.1.2 5.26E-05
14452 45 R/I 115 rs528741819 0.4069 None 1000 genomes 1.99681E-04
14452 45 R/I 115 rs528741819 0.4069 None gnomAD-4.0.0 8.67692E-06
14452 45 R/K 115 None 0.4069 None gnomAD-4.0.0 6.84321E-07
14452 45 R/S 115 rs374231453 0.4069 None gnomAD-2.1.1 4.03E-06
14452 45 R/S 115 rs374231453 0.4069 None gnomAD-4.0.0 6.84312E-07
14453 46 F/C 121 rs777429220 0.1410 None gnomAD-2.1.1 8.07E-06
14453 46 F/C 121 rs777429220 0.1410 None gnomAD-4.0.0 3.18369E-06
14453 46 F/L 121 rs878966051 0.1410 None gnomAD-4.0.0 1.59184E-06
14454 47 E/D 122 rs878912118 0.5123 None gnomAD-2.1.1 4.03E-06
14454 47 E/D 122 rs878912118 0.5123 None gnomAD-3.1.2 1.32E-05
14454 47 E/D 122 rs878912118 0.5123 None gnomAD-4.0.0 6.84319E-07
14454 47 E/G 122 None 0.5123 None gnomAD-4.0.0 1.20032E-06
14456 49 I/R 125 None 0.5275 None gnomAD-4.0.0 3.18364E-06
14457 50 K/N 127 rs756061256 0.5266 None gnomAD-2.1.1 4.03E-06
14457 50 K/N 127 rs756061256 0.5266 None gnomAD-4.0.0 6.84311E-07
14458 51 D/E 130 None 0.4780 None gnomAD-4.0.0 5.47445E-06
14460 53 T/I 134 rs1452796827 0.2930 None gnomAD-2.1.1 4.03E-06
14460 53 T/I 134 rs1452796827 0.2930 None gnomAD-4.0.0 5.47451E-06
14461 54 K/E 135 None 0.3802 None gnomAD-4.0.0 1.59181E-06
14461 54 K/R 135 rs887333870 0.3802 None gnomAD-3.1.2 1.32E-05
14461 54 K/R 135 rs887333870 0.3802 None gnomAD-4.0.0 2.47924E-06
14462 55 H/Y 136 None 0.1233 None gnomAD-4.0.0 1.20032E-06
14464 57 M/I 138 rs370601384 0.0486 None gnomAD-2.1.1 3.22E-05
14464 57 M/I 138 rs370601384 0.0486 None gnomAD-3.1.2 7.23E-05
14464 57 M/I 138 rs370601384 0.0486 None gnomAD-4.0.0 2.47932E-05
14465 58 V/M 139 None 0.1372 None gnomAD-4.0.0 1.20032E-06
14469 62 A/G 144 None 0.1693 None gnomAD-4.0.0 1.59203E-06
14470 63 A/P 145 rs766505487 0.2449 None gnomAD-2.1.1 8.06E-06
14470 63 A/P 145 rs766505487 0.2449 None gnomAD-3.1.2 2.63E-05
14470 63 A/P 145 rs766505487 0.2449 None gnomAD-4.0.0 2.85132E-05
14470 63 A/T 145 None 0.2449 None gnomAD-4.0.0 6.84347E-07
14473 66 D/G 149 None 0.1873 None gnomAD-4.0.0 4.80129E-06
14473 66 D/H 149 rs397517573 0.1873 None gnomAD-2.1.1 2.39722E-04
14473 66 D/H 149 rs397517573 0.1873 None gnomAD-3.1.2 1.1839E-04
14473 66 D/H 149 rs397517573 0.1873 None gnomAD-4.0.0 1.16535E-04
14474 67 E/D 151 rs998106657 0.5303 None gnomAD-2.1.1 8.06E-06
14474 67 E/D 151 rs998106657 0.5303 None gnomAD-3.1.2 1.97E-05
14474 67 E/D 151 rs998106657 0.5303 None gnomAD-4.0.0 6.84393E-07
14475 68 A/G 152 None 0.1615 None gnomAD-4.0.0 9.58168E-06
14477 70 Y/H 154 None 0.0835 None gnomAD-4.0.0 3.18445E-06
14478 71 M/I 155 rs1307051231 0.2684 None gnomAD-3.1.2 6.58E-06
14478 71 M/I 155 rs1307051231 0.2684 None gnomAD-4.0.0 6.57618E-06
14478 71 M/K 155 rs1576690561 0.2684 None gnomAD-4.0.0 1.59218E-06
14479 72 F/I 156 rs1184251114 0.0687 None gnomAD-2.1.1 4.03E-06
14479 72 F/I 156 rs1184251114 0.0687 None gnomAD-3.1.2 6.57E-06
14479 72 F/I 156 rs1184251114 0.0687 None gnomAD-4.0.0 4.339E-06
14479 72 F/Y 156 rs2059938240 0.0687 None gnomAD-3.1.2 6.58E-06
14479 72 F/Y 156 rs2059938240 0.0687 None gnomAD-4.0.0 2.56366E-06
14480 73 E/A 157 None 0.4050 None gnomAD-4.0.0 6.84385E-07
14480 73 E/G 157 rs1449008181 0.4050 None gnomAD-2.1.1 4.03E-06
14480 73 E/G 157 rs1449008181 0.4050 None gnomAD-4.0.0 2.05315E-06
14481 74 A/D 158 None 0.1046 None gnomAD-4.0.0 1.59227E-06
14481 74 A/P 158 None 0.1046 None gnomAD-4.0.0 6.00161E-06
14482 75 E/K 159 None 0.3969 None gnomAD-4.0.0 2.40064E-06
14483 76 D/E 161 rs765321685 0.6294 None gnomAD-2.1.1 1.79E-05
14483 76 D/E 161 rs765321685 0.6294 None gnomAD-3.1.2 1.31E-05
14483 76 D/E 161 rs765321685 0.6294 None gnomAD-4.0.0 8.97284E-06
14483 76 D/H 161 rs750442099 0.6294 None gnomAD-2.1.1 8.06E-06
14483 76 D/H 161 rs750442099 0.6294 None gnomAD-4.0.0 3.18471E-06
14484 77 K/E 162 rs762264832 0.1942 None gnomAD-2.1.1 1.79E-05
14484 77 K/E 162 rs762264832 0.1942 None gnomAD-3.1.2 1.31E-05
14484 77 K/E 162 rs762264832 0.1942 None gnomAD-4.0.0 6.19865E-06
14484 77 K/N 162 None 0.1942 None gnomAD-4.0.0 4.79094E-06
14484 77 K/Q 162 None 0.1942 None gnomAD-4.0.0 6.8441E-07
14485 78 H/Q 163 rs769249986 0.8511 None gnomAD-2.1.1 8.07E-06
14485 78 H/Q 163 rs769249986 0.8511 None gnomAD-4.0.0 2.05328E-06
14485 78 H/R 163 rs2059936761 0.8511 None gnomAD-4.0.0 1.59238E-06
14487 80 S/N 165 rs770233190 0.4090 None gnomAD-2.1.1 3.19E-05
14487 80 S/N 165 rs770233190 0.4090 None gnomAD-3.1.2 1.31E-05
14487 80 S/N 165 rs770233190 0.4090 None gnomAD-4.0.0 2.4796E-05
14487 80 S/R 165 rs2059935679 0.4090 None gnomAD-4.0.0 1.59266E-06
14488 81 G/S 166 None 0.1625 None gnomAD-4.0.0 6.84494E-07
14489 82 K/E 168 None 0.6431 None gnomAD-4.0.0 1.59278E-06
14489 82 K/R 168 None 0.6431 None gnomAD-4.0.0 1.59277E-06
14490 83 L/R 169 rs2154221765 0.1084 None gnomAD-3.1.2 6.57E-06
14490 83 L/R 169 rs2154221765 0.1084 None gnomAD-4.0.0 6.56797E-06
14491 84 I/V 178 rs765783194 0.5315 None gnomAD-3.1.2 1.97E-05
14491 84 I/V 178 rs765783194 0.5315 None gnomAD-4.0.0 1.97189E-05