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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 90
P V I V T G L Q D T T V S S D S V A K F A V K A T G E P R P T A I W T K D G K A I T Q G G K Y K L S E D K G G F F L E I H K T D T S D S G L Y T C T V K N S A G S V S S S C K L T I

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
35420 1 P/R 1 rs367732354 0.2100 None gnomAD-3.1.2 6.57E-06
35420 1 P/R 1 rs367732354 0.2100 None gnomAD-4.0.0 6.57402E-06
35420 1 P/S 1 rs567191587 0.2100 None gnomAD-2.1.1 3.21E-05
35420 1 P/S 1 rs567191587 0.2100 None gnomAD-3.1.2 1.97E-05
35420 1 P/S 1 rs567191587 0.2100 None 1000 genomes 1.99681E-04
35420 1 P/S 1 rs567191587 0.2100 None gnomAD-4.0.0 4.95683E-06
35421 2 V/L 2 None 0.6669 None gnomAD-4.0.0 1.59093E-06
35423 4 V/F 4 rs763752622 0.4411 None gnomAD-2.1.1 8.03E-06
35423 4 V/F 4 rs763752622 0.4411 None gnomAD-3.1.2 5.26E-05
35423 4 V/F 4 rs763752622 0.4411 None gnomAD-4.0.0 1.92127E-05
35424 5 T/A 5 None 0.4554 None gnomAD-4.0.0 1.20034E-06
35425 6 G/A 7 rs1204851576 0.3359 None gnomAD-2.1.1 4.01E-06
35425 6 G/A 7 rs1204851576 0.3359 None gnomAD-4.0.0 1.59096E-06
35425 6 G/R 7 rs775097433 0.3359 None gnomAD-2.1.1 4.01E-06
35426 7 L/S 8 None 0.1998 None gnomAD-4.0.0 1.59095E-06
35427 8 Q/R 9 None 0.8603 None gnomAD-4.0.0 1.59097E-06
35428 9 D/V 11 rs759065895 0.5917 None gnomAD-2.1.1 4.01E-06
35428 9 D/V 11 rs759065895 0.5917 None gnomAD-4.0.0 4.77287E-06
35429 10 T/A 13 None 0.3162 None gnomAD-4.0.0 1.20032E-06
35429 10 T/I 13 rs1241466221 0.3162 None gnomAD-3.1.2 6.57E-06
35429 10 T/I 13 rs1241466221 0.3162 None gnomAD-4.0.0 6.56961E-06
35429 10 T/K 13 rs1241466221 0.3162 None gnomAD-2.1.1 2.01E-05
35429 10 T/K 13 rs1241466221 0.3162 None gnomAD-4.0.0 7.95484E-06
35429 10 T/S 13 rs878963350 0.3162 None gnomAD-3.1.2 1.31E-05
35429 10 T/S 13 rs878963350 0.3162 None gnomAD-4.0.0 1.3137E-05
35430 11 T/A 14 rs1225799039 0.6335 None gnomAD-2.1.1 3.19E-05
35430 11 T/A 14 rs1225799039 0.6335 None gnomAD-3.1.2 6.57E-06
35430 11 T/A 14 rs1225799039 0.6335 None gnomAD-4.0.0 6.57099E-06
35430 11 T/I 14 None 0.6335 None gnomAD-4.0.0 1.59099E-06
35430 11 T/S 14 None 0.6335 None gnomAD-4.0.0 1.59099E-06
35431 12 V/A 16 rs770923321 0.1874 None gnomAD-2.1.1 4.01E-06
35431 12 V/A 16 rs770923321 0.1874 None gnomAD-4.0.0 1.59101E-06
35431 12 V/L 16 rs774220321 0.1874 None gnomAD-2.1.1 4.01E-06
35431 12 V/L 16 rs774220321 0.1874 None gnomAD-4.0.0 1.59102E-06
35432 13 S/F 18 None 0.4293 None gnomAD-4.0.0 6.84167E-07
35432 13 S/Y 18 rs773091136 0.4293 None gnomAD-2.1.1 4.01E-06
35432 13 S/Y 18 rs773091136 0.4293 None gnomAD-4.0.0 6.84167E-07
35433 14 S/L 23 None 0.4816 None gnomAD-4.0.0 1.59112E-06
35434 15 D/E 24 rs1371891927 0.6487 None gnomAD-2.1.1 3.18E-05
35434 15 D/E 24 rs1371891927 0.6487 None gnomAD-3.1.2 6.57E-06
35434 15 D/E 24 rs1371891927 0.6487 None gnomAD-4.0.0 6.5703E-06
35434 15 D/G 24 rs1362199779 0.6487 None gnomAD-2.1.1 4.01E-06
35434 15 D/G 24 rs1362199779 0.6487 None gnomAD-3.1.2 6.57E-06
35434 15 D/G 24 rs1362199779 0.6487 None gnomAD-4.0.0 3.71785E-06
35434 15 D/H 24 rs770168784 0.6487 None gnomAD-2.1.1 4.01E-06
35434 15 D/H 24 rs770168784 0.6487 None gnomAD-4.0.0 6.84185E-07
35434 15 D/Y 24 None 0.6487 None gnomAD-4.0.0 6.84185E-07
35435 16 S/G 25 rs1159073681 0.2340 None gnomAD-2.1.1 4.01E-06
35435 16 S/G 25 rs1159073681 0.2340 None gnomAD-4.0.0 1.20032E-06
35435 16 S/I 25 rs1423928961 0.2340 None gnomAD-3.1.2 6.57E-06
35435 16 S/I 25 rs1423928961 0.2340 None gnomAD-4.0.0 6.56961E-06
35435 16 S/N 25 None 0.2340 None gnomAD-4.0.0 6.84215E-07
35435 16 S/R 25 rs1688529172 0.2340 None gnomAD-3.1.2 6.57E-06
35435 16 S/R 25 rs1688529172 0.2340 None gnomAD-4.0.0 2.02978E-06
35435 16 S/T 25 rs1423928961 0.2340 None gnomAD-2.1.1 8.03E-06
35435 16 S/T 25 rs1423928961 0.2340 None gnomAD-4.0.0 7.52637E-06
35437 18 A/T 28 None 0.1314 None gnomAD-4.0.0 1.20032E-06
35438 19 K/E 29 rs755067124 0.4964 None gnomAD-2.1.1 8.03E-06
35438 19 K/E 29 rs755067124 0.4964 None gnomAD-3.1.2 1.31E-05
35438 19 K/E 29 rs755067124 0.4964 None gnomAD-4.0.0 3.09871E-06
35439 20 F/L 30 None 0.1598 None gnomAD-4.0.0 1.36892E-06
35439 20 F/S 30 None 0.1598 None gnomAD-4.0.0 1.59251E-06
35440 21 A/S 31 None 0.3105 None gnomAD-4.0.0 1.5927E-06
35440 21 A/V 31 rs747111465 0.3105 None gnomAD-2.1.1 2.81E-05
35440 21 A/V 31 rs747111465 0.3105 None gnomAD-4.0.0 1.11496E-05
35441 22 V/F 33 None 0.1235 None gnomAD-4.0.0 1.20032E-06
35442 23 K/E 34 None 0.5500 None gnomAD-4.0.0 2.40064E-06
35442 23 K/R 34 rs1688520726 0.5500 None gnomAD-4.0.0 1.20032E-06
35443 24 A/G 35 None 0.1557 None gnomAD-4.0.0 3.60097E-06
35443 24 A/T 35 rs1369230756 0.1557 None gnomAD-2.1.1 4.02E-06
35443 24 A/T 35 rs1369230756 0.1557 None gnomAD-4.0.0 1.5929E-06
35444 25 T/A 38 rs1688516881 0.6446 None gnomAD-4.0.0 1.36984E-06
35444 25 T/I 38 rs1452745293 0.6446 None gnomAD-2.1.1 3.18E-05
35444 25 T/I 38 rs1452745293 0.6446 None gnomAD-3.1.2 6.57E-06
35444 25 T/I 38 rs1452745293 0.6446 None gnomAD-4.0.0 3.85081E-06
35444 25 T/P 38 None 0.6446 None gnomAD-4.0.0 6.84922E-07
35445 26 G/E 40 None 0.3028 None gnomAD-4.0.0 1.20032E-06
35447 28 P/R 42 None 0.4914 None gnomAD-4.0.0 8.23794E-06
35447 28 P/S 42 None 0.4914 None gnomAD-4.0.0 2.05894E-06
35448 29 R/Q 43 rs369703073 0.6450 None gnomAD-2.1.1 2.16E-05
35448 29 R/Q 43 rs369703073 0.6450 None gnomAD-3.1.2 6.57E-06
35448 29 R/Q 43 rs369703073 0.6450 None gnomAD-4.0.0 1.74241E-05
35448 29 R/W 43 rs530453291 0.6450 None gnomAD-2.1.1 4.31E-05
35448 29 R/W 43 rs530453291 0.6450 None gnomAD-3.1.2 2.63E-05
35448 29 R/W 43 rs530453291 0.6450 None 1000 genomes 1.99681E-04
35448 29 R/W 43 rs530453291 0.6450 None gnomAD-4.0.0 1.36869E-05
35449 30 P/L 44 rs1688512562 0.1755 None gnomAD-3.1.2 6.57E-06
35449 30 P/L 44 rs1688512562 0.1755 None gnomAD-4.0.0 6.56538E-06
35449 30 P/Q 44 rs1688512562 0.1755 None gnomAD-4.0.0 6.43209E-06
35450 31 T/I 45 rs371022420 0.5771 None gnomAD-4.0.0 1.37635E-06
35450 31 T/S 45 rs371022420 0.5771 None gnomAD-2.1.1 6.14E-05
35450 31 T/S 45 rs371022420 0.5771 None gnomAD-3.1.2 1.6423E-04
35450 31 T/S 45 rs371022420 0.5771 None 1000 genomes 1.99681E-04
35450 31 T/S 45 rs371022420 0.5771 None gnomAD-4.0.0 3.48809E-05
35452 33 I/M 47 None 0.6101 None gnomAD-4.0.0 1.61619E-06
35453 34 W/C 48 None 0.1564 None gnomAD-4.0.0 1.20034E-06
35453 34 W/R 48 None 0.1564 None gnomAD-4.0.0 1.61741E-06
35454 35 T/P 49 rs1476312387 0.2219 None gnomAD-4.0.0 1.62059E-06
35455 36 K/N 50 rs757588041 0.1227 None gnomAD-2.1.1 8.32E-06
35455 36 K/N 50 rs757588041 0.1227 None gnomAD-4.0.0 3.26314E-06
35456 37 D/V 51 rs1288351302 0.5016 None gnomAD-4.0.0 1.64028E-06
35457 38 G/V 52 None 0.5051 None gnomAD-4.0.0 6.93753E-07
35458 39 K/E 55 None 0.8060 None gnomAD-4.0.0 1.38739E-06
35458 39 K/R 55 rs1558983295 0.8060 None gnomAD-2.1.1 4.23E-06
35458 39 K/T 55 None 0.8060 None gnomAD-4.0.0 1.6442E-06
35459 40 A/V 56 rs879170800 0.5297 None gnomAD-3.1.2 6.57E-06
35459 40 A/V 56 rs879170800 0.5297 None gnomAD-4.0.0 9.32468E-06
35460 41 I/T 58 rs1398739704 0.1569 None gnomAD-2.1.1 3.18E-05
35460 41 I/T 58 rs1398739704 0.1569 None gnomAD-3.1.2 1.31E-05
35460 41 I/T 58 rs1398739704 0.1569 None gnomAD-4.0.0 5.63877E-06
35460 41 I/V 58 rs1688408023 0.1569 None gnomAD-4.0.0 1.67422E-06
35461 42 T/A 59 rs1452738777 0.7633 None gnomAD-2.1.1 4.35E-06
35461 42 T/A 59 rs1452738777 0.7633 None gnomAD-4.0.0 1.6385E-06
35461 42 T/I 59 rs773250184 0.7633 None gnomAD-2.1.1 8.7E-06
35461 42 T/I 59 rs773250184 0.7633 None gnomAD-4.0.0 3.27724E-06
35462 43 Q/R 70 rs376392819 0.5035 None gnomAD-3.1.2 3.94E-05
35462 43 Q/R 70 rs376392819 0.5035 None gnomAD-4.0.0 5.6268E-06
35463 44 G/A 73 rs373369136 0.4075 None gnomAD-2.1.1 1.89E-05
35463 44 G/A 73 rs373369136 0.4075 None gnomAD-3.1.2 4.6E-05
35463 44 G/A 73 rs373369136 0.4075 None gnomAD-4.0.0 6.55598E-05
35463 44 G/R 73 rs1474079403 0.4075 None gnomAD-3.1.2 6.57E-06
35463 44 G/R 73 rs1474079403 0.4075 None gnomAD-4.0.0 1.06155E-05
35464 45 G/D 102 rs528138560 0.7732 None gnomAD-3.1.2 6.57E-06
35464 45 G/D 102 rs528138560 0.7732 None 1000 genomes 1.99681E-04
35464 45 G/D 102 rs528138560 0.7732 None gnomAD-4.0.0 2.59754E-06
35464 45 G/R 102 None 0.7732 None gnomAD-4.0.0 6.89775E-07
35465 46 K/T 115 rs1408549737 0.2181 None gnomAD-3.1.2 6.57E-06
35465 46 K/T 115 rs1408549737 0.2181 None gnomAD-4.0.0 2.59457E-06
35468 49 L/H 123 rs952475900 0.2615 None gnomAD-2.1.1 8.32E-06
35468 49 L/H 123 rs952475900 0.2615 None gnomAD-4.0.0 1.99363E-05
35468 49 L/P 123 None 0.2615 None gnomAD-4.0.0 1.37492E-06
35469 50 S/P 125 None 0.3833 None gnomAD-4.0.0 3.20718E-06
35471 52 D/N 130 None 0.4958 None gnomAD-4.0.0 6.86113E-07
35472 53 K/N 131 rs776781963 0.7489 None gnomAD-2.1.1 4.06E-06
35472 53 K/N 131 rs776781963 0.7489 None gnomAD-4.0.0 6.85476E-07
35473 54 G/R 134 rs768859424 0.2596 None gnomAD-2.1.1 8.12E-06
35473 54 G/R 134 rs768859424 0.2596 None gnomAD-3.1.2 1.97E-05
35473 54 G/R 134 rs768859424 0.2596 None gnomAD-4.0.0 1.97174E-05
35474 55 G/A 135 None 0.0920 None gnomAD-4.0.0 1.59814E-06
35474 55 G/V 135 rs747075406 0.0920 None gnomAD-2.1.1 4.06E-06
35474 55 G/V 135 rs747075406 0.0920 None gnomAD-4.0.0 3.19628E-06
35475 56 F/C 136 None 0.1338 None gnomAD-4.0.0 1.20035E-06
35475 56 F/I 136 rs377463445 0.1338 None gnomAD-2.1.1 1.54253E-04
35475 56 F/I 136 rs377463445 0.1338 None gnomAD-3.1.2 5.26E-05
35475 56 F/I 136 rs377463445 0.1338 None 1000 genomes 1.99681E-04
35475 56 F/I 136 rs377463445 0.1338 None gnomAD-4.0.0 7.8827E-05
35475 56 F/L 136 rs1445321656 0.1338 None gnomAD-2.1.1 3.19E-05
35475 56 F/L 136 rs1445321656 0.1338 None gnomAD-3.1.2 6.57E-06
35475 56 F/L 136 rs1445321656 0.1338 None gnomAD-4.0.0 6.57047E-06
35475 56 F/V 136 rs377463445 0.1338 None gnomAD-2.1.1 8.12E-06
35475 56 F/V 136 rs377463445 0.1338 None gnomAD-4.0.0 6.16861E-06
35476 57 F/L 137 None 0.3215 None gnomAD-4.0.0 1.59697E-06
35480 61 H/D 141 rs1171675957 0.5178 None gnomAD-2.1.1 4.05E-06
35480 61 H/P 141 None 0.5178 None gnomAD-4.0.0 1.37032E-06
35480 61 H/R 141 rs766337455 0.5178 None gnomAD-3.1.2 3.94E-05
35480 61 H/R 141 rs766337455 0.5178 None gnomAD-4.0.0 1.61316E-05
35481 62 K/R 143 rs200716018 0.6835 None gnomAD-2.1.1 4.67E-05
35481 62 K/R 143 rs200716018 0.6835 None gnomAD-3.1.2 1.05128E-04
35481 62 K/R 143 rs200716018 0.6835 None gnomAD-4.0.0 1.60703E-04
35482 63 T/A 144 rs1423470146 0.1093 None gnomAD-2.1.1 4.04E-06
35482 63 T/A 144 rs1423470146 0.1093 None gnomAD-4.0.0 1.59654E-06
35482 63 T/S 144 rs1423470146 0.1093 None gnomAD-4.0.0 3.19307E-06
35484 65 T/I 146 rs754163825 0.7957 None gnomAD-3.1.2 6.57E-06
35484 65 T/I 146 rs754163825 0.7957 None gnomAD-4.0.0 6.57134E-06
35484 65 T/N 146 None 0.7957 None gnomAD-4.0.0 5.4854E-06
35484 65 T/P 146 None 0.7957 None gnomAD-4.0.0 1.59899E-06
35484 65 T/S 146 rs754163825 0.7957 None gnomAD-2.1.1 4.07E-06
35484 65 T/S 146 rs754163825 0.7957 None gnomAD-4.0.0 3.42838E-06
35485 66 S/T 148 None 0.4226 None gnomAD-4.0.0 1.20038E-06
35486 67 D/E 149 None 0.1240 None gnomAD-4.0.0 6.85896E-07
35488 69 G/R 152 rs1478637421 0.1843 None gnomAD-2.1.1 4.08E-06
35488 69 G/R 152 rs1478637421 0.1843 None gnomAD-4.0.0 1.60066E-06
35489 70 L/H 153 rs767087308 0.5185 None gnomAD-2.1.1 4.09E-06
35489 70 L/H 153 rs767087308 0.5185 None gnomAD-3.1.2 6.57E-06
35489 70 L/H 153 rs767087308 0.5185 None gnomAD-4.0.0 9.01121E-06
35490 71 Y/D 154 None 0.1084 None gnomAD-4.0.0 2.05798E-06
35490 71 Y/H 154 rs199663911 0.1084 None gnomAD-2.1.1 1.62791E-04
35490 71 Y/H 154 rs199663911 0.1084 None gnomAD-3.1.2 5.26E-05
35490 71 Y/H 154 rs199663911 0.1084 None gnomAD-4.0.0 7.01884E-05
35490 71 Y/N 154 rs199663911 0.1084 None gnomAD-2.1.1 4.08E-06
35490 71 Y/N 154 rs199663911 0.1084 None gnomAD-4.0.0 6.85993E-07
35491 72 T/I 155 rs1461069852 0.2251 None gnomAD-2.1.1 3.19E-05
35491 72 T/I 155 rs1461069852 0.2251 None gnomAD-3.1.2 6.57E-06
35491 72 T/I 155 rs1461069852 0.2251 None gnomAD-4.0.0 6.57091E-06
35491 72 T/N 155 rs1461069852 0.2251 None gnomAD-4.0.0 1.60283E-06
35492 73 C/G 156 None 0.0886 None gnomAD-4.0.0 6.86708E-07
35492 73 C/R 156 None 0.0886 None gnomAD-4.0.0 4.12025E-06
35492 73 C/S 156 rs1242910392 0.0886 None gnomAD-2.1.1 3.19E-05
35492 73 C/S 156 rs1242910392 0.0886 None gnomAD-4.0.0 6.86774E-07
35492 73 C/Y 156 None 0.0886 None gnomAD-4.0.0 6.86774E-07
35494 75 V/A 158 rs988261167 0.1209 None gnomAD-4.0.0 1.61438E-06
35494 75 V/I 158 rs1310141973 0.1209 None gnomAD-2.1.1 4.16E-06
35494 75 V/I 158 rs1310141973 0.1209 None gnomAD-4.0.0 1.61355E-06
35496 77 N/K 161 None 0.1522 None gnomAD-4.0.0 1.20032E-06
35497 78 S/A 162 rs369870182 0.6868 None gnomAD-2.1.1 7.43E-06
35497 78 S/A 162 rs369870182 0.6868 None gnomAD-3.1.2 2.63E-05
35497 78 S/A 162 rs369870182 0.6868 None gnomAD-4.0.0 2.61938E-05
35497 78 S/L 162 rs1688350064 0.6868 None gnomAD-4.0.0 4.82355E-06
35498 79 A/P 163 rs878879036 0.6827 None gnomAD-4.0.0 1.37841E-06
35498 79 A/S 163 None 0.6827 None gnomAD-4.0.0 6.89206E-07
35499 80 G/E 164 rs1211721189 0.2977 None gnomAD-4.0.0 2.40065E-06
35499 80 G/R 164 rs779794234 0.2977 None gnomAD-4.0.0 1.62014E-06
35503 84 S/F 169 rs1688342681 0.2214 None gnomAD-3.1.2 6.57E-06
35503 84 S/F 169 rs1688342681 0.2214 None gnomAD-4.0.0 6.51274E-06
35504 85 S/I 171 None 0.4031 None gnomAD-4.0.0 6.91209E-07
35504 85 S/N 171 None 0.4031 None gnomAD-4.0.0 6.91209E-07
35504 85 S/T 171 rs575070622 0.4031 None gnomAD-2.1.1 6.75E-05
35504 85 S/T 171 rs575070622 0.4031 None gnomAD-3.1.2 7.23E-05
35504 85 S/T 171 rs575070622 0.4031 None 1000 genomes 1.99681E-04
35504 85 S/T 171 rs575070622 0.4031 None gnomAD-4.0.0 3.43962E-05
35505 86 C/Y 172 rs2154132356 0.0960 None gnomAD-4.0.0 1.63721E-06
35506 87 K/R 173 None 0.6643 None gnomAD-4.0.0 6.93101E-07
35506 87 K/T 173 rs1688340193 0.6643 None gnomAD-4.0.0 6.23791E-06
35507 88 L/F 174 None 0.1068 None gnomAD-4.0.0 1.64877E-06
35508 89 T/S 175 None 0.4893 None gnomAD-4.0.0 6.94625E-07
35509 90 I/T 177 rs1447572736 0.2027 None gnomAD-2.1.1 4.43E-06
35509 90 I/T 177 rs1447572736 0.2027 None gnomAD-4.0.0 7.65311E-06