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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14497 1 L/P 1 None 0.3509 None gnomAD-4.0.0 1.67021E-06
14499 3 F/L 3 rs754004380 0.1761 None gnomAD-4.0.0 3.30061E-06
14500 4 L/F 4 None 0.3920 None gnomAD-4.0.0 1.64681E-06
14501 5 T/A 5 rs764500643 0.3056 None gnomAD-2.1.1 3.54E-05
14501 5 T/A 5 rs764500643 0.3056 None gnomAD-3.1.2 5.93E-05
14501 5 T/A 5 rs764500643 0.3056 None gnomAD-4.0.0 1.25638E-05
14501 5 T/I 5 rs115825044 0.3056 None gnomAD-2.1.1 1.78E-05
14501 5 T/I 5 rs115825044 0.3056 None gnomAD-4.0.0 2.08197E-06
14501 5 T/N 5 None 0.3056 None gnomAD-2.1.1 5.08E-05
14501 5 T/N 5 None 0.3056 None gnomAD-3.1.2 1.32E-05
14501 5 T/N 5 None 0.3056 None gnomAD-4.0.0 1.1928E-05
14501 5 T/S 5 rs115825044 0.3056 None gnomAD-2.1.1 1.21208E-04
14501 5 T/S 5 rs115825044 0.3056 None gnomAD-3.1.2 4.14626E-04
14501 5 T/S 5 rs115825044 0.3056 None 1000 genomes 9.98403E-04
14501 5 T/S 5 rs115825044 0.3056 None gnomAD-4.0.0 1.04206E-04
14502 6 P/R 7 None 0.4044 None gnomAD-4.0.0 6.93061E-07
14503 7 L/P 8 None 0.1140 None gnomAD-4.0.0 3.45772E-06
14504 8 K/E 9 None 0.7808 None gnomAD-4.0.0 6.91768E-07
14504 8 K/R 9 None 0.7808 None gnomAD-4.0.0 1.20032E-06
14505 9 D/E 11 None 0.5393 None gnomAD-4.0.0 6.90376E-07
14505 9 D/H 11 rs1479425024 0.5393 None gnomAD-2.1.1 4.36E-06
14505 9 D/H 11 rs1479425024 0.5393 None gnomAD-4.0.0 1.62926E-06
14506 10 V/A 13 rs1270698475 0.1903 None gnomAD-2.1.1 4.33E-06
14506 10 V/A 13 rs1270698475 0.1903 None gnomAD-4.0.0 1.62406E-06
14508 12 A/T 16 None 0.1303 None gnomAD-4.0.0 6.90055E-07
14509 13 K/Q 18 rs2059909024 0.5613 None gnomAD-3.1.2 6.58E-06
14509 13 K/Q 18 rs2059909024 0.5613 None gnomAD-4.0.0 2.49553E-06
14509 13 K/R 18 rs772970275 0.5613 None gnomAD-2.1.1 2.15E-05
14509 13 K/R 18 rs772970275 0.5613 None gnomAD-3.1.2 6.58E-06
14509 13 K/R 18 rs772970275 0.5613 None gnomAD-4.0.0 7.79452E-06
14510 14 E/D 23 None 0.4732 None gnomAD-4.0.0 1.61706E-06
14510 14 E/Q 23 rs769619291 0.4732 None gnomAD-2.1.1 4.3E-06
14511 15 K/N 24 None 0.8477 None gnomAD-4.0.0 1.6151E-06
14512 16 E/A 25 None 0.2970 None gnomAD-4.0.0 1.20032E-06
14512 16 E/D 25 rs776208084 0.2970 None gnomAD-2.1.1 4.28E-06
14512 16 E/D 25 rs776208084 0.2970 None gnomAD-4.0.0 1.61477E-06
14513 17 S/N 26 rs557216748 0.3949 None gnomAD-2.1.1 3.43E-05
14513 17 S/N 26 rs557216748 0.3949 None gnomAD-3.1.2 3.29E-05
14513 17 S/N 26 rs557216748 0.3949 None 1000 genomes 1.99681E-04
14513 17 S/N 26 rs557216748 0.3949 None gnomAD-4.0.0 3.0546E-05
14513 17 S/T 26 rs557216748 0.3949 None gnomAD-3.1.2 6.58E-06
14513 17 S/T 26 rs557216748 0.3949 None gnomAD-4.0.0 1.24687E-06
14514 18 A/P 28 None 0.1212 None gnomAD-4.0.0 6.883E-07
14514 18 A/T 28 rs1277313297 0.1212 None gnomAD-4.0.0 6.88301E-07
14515 19 V/A 29 None 0.4317 None gnomAD-4.0.0 1.61086E-06
14515 19 V/L 29 None 0.4317 None gnomAD-4.0.0 8.40227E-06
14517 21 T/A 31 rs2154220669 0.3343 None gnomAD-3.1.2 6.58E-06
14517 21 T/A 31 rs2154220669 0.3343 None gnomAD-4.0.0 6.5722E-06
14518 22 V/M 33 rs746989081 0.0772 None gnomAD-2.1.1 1.28E-05
14518 22 V/M 33 rs746989081 0.0772 None gnomAD-3.1.2 6.58E-06
14518 22 V/M 33 rs746989081 0.0772 None gnomAD-4.0.0 4.36051E-06
14519 23 E/A 34 rs1284272355 0.2765 None gnomAD-2.1.1 4.25E-06
14519 23 E/A 34 rs1284272355 0.2765 None gnomAD-4.0.0 1.61024E-06
14521 25 S/A 38 None 0.1669 None gnomAD-4.0.0 6.8753E-07
14521 25 S/C 38 rs1326450347 0.1669 None gnomAD-3.1.2 6.58E-06
14521 25 S/C 38 rs1326450347 0.1669 None gnomAD-4.0.0 6.57903E-06
14521 25 S/F 38 None 0.1669 None gnomAD-4.0.0 1.37494E-06
14521 25 S/P 38 rs1161247099 0.1669 None gnomAD-2.1.1 3.19E-05
14521 25 S/P 38 rs1161247099 0.1669 None gnomAD-3.1.2 1.32E-05
14521 25 S/P 38 rs1161247099 0.1669 None gnomAD-4.0.0 3.73471E-06
14522 26 H/D 40 None 0.6192 None gnomAD-4.0.0 6.87452E-07
14522 26 H/P 40 None 0.6192 None gnomAD-4.0.0 4.81666E-06
14522 26 H/R 40 rs374085402 0.6192 None gnomAD-2.1.1 5.5E-05
14522 26 H/R 40 rs374085402 0.6192 None gnomAD-3.1.2 6.58E-06
14522 26 H/R 40 rs374085402 0.6192 None gnomAD-4.0.0 1.99282E-05
14523 27 D/E 42 rs758154539 0.4800 None gnomAD-2.1.1 8.44E-06
14523 27 D/E 42 rs758154539 0.4800 None gnomAD-3.1.2 1.32E-05
14523 27 D/E 42 rs758154539 0.4800 None gnomAD-4.0.0 4.97754E-06
14525 29 I/V 44 rs2059904805 0.2309 None gnomAD-3.1.2 6.58E-06
14525 29 I/V 44 rs2059904805 0.2309 None gnomAD-4.0.0 6.57549E-06
14526 30 R/L 45 rs373491468 0.9609 None gnomAD-2.1.1 1.26E-05
14526 30 R/L 45 rs373491468 0.9609 None gnomAD-4.0.0 1.37382E-06
14526 30 R/Q 45 None 0.9609 None gnomAD-2.1.1 1.03826E-04
14526 30 R/Q 45 None 0.9609 None gnomAD-3.1.2 1.71127E-04
14526 30 R/Q 45 None 0.9609 None gnomAD-4.0.0 2.81142E-04
14527 31 V/I 46 rs1358591664 0.2211 None gnomAD-2.1.1 7.39E-06
14527 31 V/I 46 rs1358591664 0.2211 None gnomAD-3.1.2 6.58E-06
14527 31 V/I 46 rs1358591664 0.2211 None gnomAD-4.0.0 6.21792E-06
14531 35 K/N 50 rs1233735388 0.2149 None gnomAD-3.1.2 6.58E-06
14531 35 K/N 50 rs1233735388 0.2149 None gnomAD-4.0.0 2.57678E-06
14532 36 N/H 51 None 0.5008 None gnomAD-4.0.0 3.20359E-06
14533 37 D/E 52 None 0.6294 None gnomAD-4.0.0 1.37225E-06
14533 37 D/G 52 None 0.6294 None gnomAD-4.0.0 2.40064E-06
14534 38 Q/R 55 rs1431389358 0.7524 None gnomAD-2.1.1 4.13E-06
14534 38 Q/R 55 rs1431389358 0.7524 None gnomAD-4.0.0 1.3722E-06
14535 39 R/C 56 rs12471771 0.4788 None gnomAD-2.1.1 2.14659E-02
14535 39 R/C 56 rs12471771 0.4788 None gnomAD-3.1.2 9.76521E-03
14535 39 R/C 56 rs12471771 0.4788 None 1000 genomes 1.61741E-02
14535 39 R/C 56 rs12471771 0.4788 None gnomAD-4.0.0 5.45174E-03
14535 39 R/H 56 rs764250397 0.4788 None gnomAD-2.1.1 2.48E-05
14535 39 R/H 56 rs764250397 0.4788 None gnomAD-4.0.0 1.09771E-05
14535 39 R/S 56 rs12471771 0.4788 None gnomAD-2.1.1 4.13E-06
14536 40 L/P 58 rs1405325105 0.1726 None gnomAD-2.1.1 4.12E-06
14536 40 L/P 58 rs1405325105 0.1726 None gnomAD-4.0.0 1.60113E-06
14536 40 L/Q 58 rs1405325105 0.1726 None gnomAD-4.0.0 1.60113E-06
14537 41 H/Q 59 None 0.6740 None gnomAD-4.0.0 6.85972E-07
14538 42 T/A 70 None 0.6078 None gnomAD-4.0.0 4.80183E-06
14538 42 T/I 70 None 0.6078 None gnomAD-4.0.0 6.8594E-07
14538 42 T/N 70 None 0.6078 None gnomAD-4.0.0 6.8594E-07
14541 45 S/L 115 rs768180052 0.4031 None gnomAD-2.1.1 8.25E-06
14541 45 S/L 115 rs768180052 0.4031 None gnomAD-4.0.0 5.4887E-06
14542 46 V/L 121 None 0.1363 None gnomAD-4.0.0 1.60164E-06
14543 47 S/A 122 None 0.3778 None gnomAD-4.0.0 1.20032E-06
14544 48 M/I 123 rs774916528 0.2491 None gnomAD-2.1.1 1.24E-05
14544 48 M/I 123 rs774916528 0.2491 None gnomAD-3.1.2 3.29E-05
14544 48 M/I 123 rs774916528 0.2491 None gnomAD-4.0.0 1.03081E-05
14544 48 M/T 123 rs1576685386 0.2491 None gnomAD-4.0.0 1.20032E-06
14544 48 M/V 123 rs1046991494 0.2491 None gnomAD-2.1.1 4.13E-06
14544 48 M/V 123 rs1046991494 0.2491 None gnomAD-3.1.2 6.58E-06
14544 48 M/V 123 rs1046991494 0.2491 None gnomAD-4.0.0 3.10662E-06
14545 49 Q/L 125 rs2059898049 0.7680 None gnomAD-3.1.2 1.32E-05
14545 49 Q/L 125 rs2059898049 0.7680 None gnomAD-4.0.0 5.15213E-06
14547 51 E/K 130 rs761539202 0.8571 None gnomAD-2.1.1 7.35E-06
14547 51 E/K 130 rs761539202 0.8571 None gnomAD-3.1.2 2.63E-05
14547 51 E/K 130 rs761539202 0.8571 None gnomAD-4.0.0 1.30534E-05
14547 51 E/Q 130 rs761539202 0.8571 None gnomAD-2.1.1 4.15E-06
14547 51 E/Q 130 rs761539202 0.8571 None gnomAD-4.0.0 6.86468E-07
14549 53 K/R 134 rs775953090 0.2524 None gnomAD-2.1.1 4.16E-06
14549 53 K/R 134 rs775953090 0.2524 None gnomAD-4.0.0 1.37305E-06
14549 53 K/T 134 rs775953090 0.2524 None gnomAD-2.1.1 4.16E-06
14549 53 K/T 134 rs775953090 0.2524 None gnomAD-4.0.0 1.37305E-06
14550 54 T/P 135 rs2059896873 0.2969 None gnomAD-4.0.0 6.86621E-07
14552 56 S/A 137 None 0.1730 None gnomAD-4.0.0 6.86782E-07
14552 56 S/L 137 rs1454698596 0.1730 None gnomAD-3.1.2 6.58E-06
14552 56 S/L 137 rs1454698596 0.1730 None gnomAD-4.0.0 3.73242E-06
14552 56 S/P 137 None 0.1730 None gnomAD-4.0.0 1.37356E-06
14553 57 I/V 138 None 0.0565 None gnomAD-4.0.0 6.86982E-07
14555 59 F/L 140 rs1452980014 0.1515 None gnomAD-2.1.1 4.2E-06
14556 60 K/E 141 rs1553738199 0.5720 None gnomAD-4.0.0 3.21266E-06
14557 61 D/A 143 None 0.8357 None gnomAD-4.0.0 1.60684E-06
14557 61 D/N 143 rs794729431 0.8357 None gnomAD-3.1.2 6.58E-06
14557 61 D/N 143 rs794729431 0.8357 None gnomAD-4.0.0 1.5495E-05
14557 61 D/Y 143 None 0.8357 None gnomAD-4.0.0 1.60671E-06
14559 63 S/P 145 None 0.2058 None gnomAD-4.0.0 1.60607E-06
14560 64 I/V 146 rs2059893136 0.3897 None gnomAD-4.0.0 4.80815E-06
14561 65 D/A 148 None 0.7141 None gnomAD-4.0.0 1.60532E-06
14561 65 D/G 148 None 0.7141 None gnomAD-4.0.0 1.60532E-06
14561 65 D/Y 148 rs745655055 0.7141 None gnomAD-2.1.1 7.4E-06
14561 65 D/Y 148 rs745655055 0.7141 None gnomAD-3.1.2 6.58E-06
14561 65 D/Y 148 rs745655055 0.7141 None gnomAD-4.0.0 4.97547E-06
14562 66 D/V 149 None 0.2322 None gnomAD-4.0.0 1.60496E-06
14563 67 T/I 151 rs778681205 0.2956 None gnomAD-2.1.1 4.17E-06
14563 67 T/I 151 rs778681205 0.2956 None gnomAD-4.0.0 5.49271E-06
14564 68 S/C 152 rs377015571 0.1085 None gnomAD-2.1.1 2.92E-05
14564 68 S/C 152 rs377015571 0.1085 None gnomAD-3.1.2 1.97E-05
14564 68 S/C 152 rs377015571 0.1085 None gnomAD-4.0.0 1.30542E-05
14564 68 S/T 152 rs181189778 0.1085 None gnomAD-2.1.1 2.95172E-04
14564 68 S/T 152 rs181189778 0.1085 None gnomAD-3.1.2 3.22229E-04
14564 68 S/T 152 rs181189778 0.1085 None 1000 genomes 1.99681E-04
14564 68 S/T 152 rs181189778 0.1085 None gnomAD-4.0.0 3.53727E-04
14565 69 Q/P 153 rs1357364341 0.4438 None gnomAD-3.1.2 6.58E-06
14565 69 Q/P 153 rs1357364341 0.4438 None gnomAD-4.0.0 6.57644E-06
14566 70 I/L 154 rs1415295161 0.0568 None gnomAD-4.0.0 1.30414E-05
14567 71 R/T 155 rs555652524 0.1849 None gnomAD-2.1.1 1.25E-05
14567 71 R/T 155 rs555652524 0.1849 None gnomAD-3.1.2 3.29E-05
14567 71 R/T 155 rs555652524 0.1849 None 1000 genomes 1.99681E-04
14567 71 R/T 155 rs555652524 0.1849 None gnomAD-4.0.0 1.67814E-05
14568 72 V/G 156 None 0.0612 None gnomAD-4.0.0 1.60354E-06
14568 72 V/I 156 rs372384272 0.0612 None gnomAD-2.1.1 4.16E-06
14568 72 V/I 156 rs372384272 0.0612 None gnomAD-3.1.2 1.97E-05
14568 72 V/I 156 rs372384272 0.0612 None gnomAD-4.0.0 4.97249E-06
14569 73 E/D 157 rs1262651823 0.2692 None gnomAD-3.1.2 6.57E-06
14569 73 E/D 157 rs1262651823 0.2692 None gnomAD-4.0.0 3.10798E-06
14570 74 A/G 158 None 0.1195 None gnomAD-4.0.0 1.60394E-06
14571 75 M/L 159 None 0.6177 None gnomAD-4.0.0 6.86579E-07
14571 75 M/T 159 rs910523235 0.6177 None gnomAD-3.1.2 1.31E-05
14571 75 M/T 159 rs910523235 0.6177 None gnomAD-4.0.0 2.23789E-05
14571 75 M/V 159 rs373801238 0.6177 None gnomAD-2.1.1 1.25E-05
14571 75 M/V 159 rs373801238 0.6177 None gnomAD-3.1.2 6.57E-06
14571 75 M/V 159 rs373801238 0.6177 None gnomAD-4.0.0 3.10831E-06
14572 76 G/W 161 None 0.6201 None gnomAD-4.0.0 1.60464E-06
14573 77 M/L 162 rs755610701 0.2299 None gnomAD-2.1.1 4.17E-06
14573 77 M/L 162 rs755610701 0.2299 None gnomAD-4.0.0 2.06059E-06
14573 77 M/V 162 rs755610701 0.2299 None gnomAD-2.1.1 1.47E-05
14573 77 M/V 162 rs755610701 0.2299 None gnomAD-3.1.2 6.58E-06
14573 77 M/V 162 rs755610701 0.2299 None gnomAD-4.0.0 1.43037E-05
14574 78 S/N 163 None 0.3187 None gnomAD-4.0.0 1.60748E-06
14576 80 E/D 171 rs2059887761 0.3743 None gnomAD-3.1.2 1.31E-05
14576 80 E/D 171 rs2059887761 0.3743 None gnomAD-4.0.0 1.31487E-05
14579 83 L/P 174 None 0.0785 None gnomAD-4.0.0 6.91713E-07
14580 84 T/A 175 rs1381530830 0.2785 None gnomAD-2.1.1 4.34E-06
14580 84 T/I 175 None 0.2785 None gnomAD-4.0.0 1.64042E-06
14580 84 T/S 175 None 0.2785 None gnomAD-4.0.0 1.64042E-06
14582 86 L/R 178 rs2059886153 0.5675 None gnomAD-3.1.2 6.57E-06
14582 86 L/R 178 rs2059886153 0.5675 None gnomAD-4.0.0 6.57367E-06