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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15480 1 V/L 1 rs777031546 0.4340 None gnomAD-2.1.1 8.29E-06
15480 1 V/L 1 rs777031546 0.4340 None gnomAD-4.0.0 1.60893E-06
15481 2 E/Q 2 None 0.6192 None gnomAD-4.0.0 2.40064E-06
15483 4 I/V 4 None 0.4331 None gnomAD-4.0.0 1.59994E-06
15484 5 R/K 5 rs72677229 0.5618 None gnomAD-2.1.1 1.91319E-04
15484 5 R/K 5 rs72677229 0.5618 None gnomAD-3.1.2 2.30597E-04
15484 5 R/K 5 rs72677229 0.5618 None gnomAD-4.0.0 2.99292E-04
15484 5 R/M 5 rs72677229 0.5618 None gnomAD-2.1.1 8.14E-06
15484 5 R/M 5 rs72677229 0.5618 None gnomAD-4.0.0 3.42774E-06
15485 6 P/A 7 rs1334870025 0.4419 None gnomAD-3.1.2 6.59E-06
15485 6 P/A 7 rs1334870025 0.4419 None gnomAD-4.0.0 6.58016E-06
15485 6 P/L 7 None 0.4419 None gnomAD-4.0.0 1.20032E-06
15485 6 P/T 7 rs1334870025 0.4419 None gnomAD-2.1.1 4.06E-06
15485 6 P/T 7 rs1334870025 0.4419 None gnomAD-4.0.0 6.16823E-06
15486 7 P/L 8 rs1234009054 0.1584 None gnomAD-2.1.1 3.19E-05
15486 7 P/L 8 rs1234009054 0.1584 None gnomAD-3.1.2 1.98E-05
15486 7 P/L 8 rs1234009054 0.1584 None gnomAD-4.0.0 1.97582E-05
15486 7 P/S 8 rs907482265 0.1584 None gnomAD-2.1.1 1.22E-05
15486 7 P/S 8 rs907482265 0.1584 None gnomAD-4.0.0 2.74154E-06
15487 8 Q/E 9 None 0.8068 None gnomAD-4.0.0 6.85105E-07
15487 8 Q/K 9 None 0.8068 None gnomAD-4.0.0 6.85105E-07
15487 8 Q/P 9 None 0.8068 None gnomAD-4.0.0 2.40064E-06
15487 8 Q/R 9 None 0.8068 None gnomAD-4.0.0 1.20032E-06
15490 11 L/I 14 None 0.6166 None gnomAD-4.0.0 1.20032E-06
15492 13 A/D 18 None 0.2999 None gnomAD-4.0.0 1.59536E-06
15492 13 A/T 18 rs1370664332 0.2999 None gnomAD-2.1.1 4.05E-06
15492 13 A/T 18 rs1370664332 0.2999 None gnomAD-4.0.0 3.19057E-06
15493 14 P/S 23 rs1173523537 0.3142 None gnomAD-4.0.0 1.59509E-06
15494 15 G/V 24 rs1433448268 0.3015 None gnomAD-2.1.1 4.05E-06
15494 15 G/V 24 rs1433448268 0.3015 None gnomAD-4.0.0 1.59492E-06
15495 16 A/D 25 rs376839162 0.2012 None gnomAD-2.1.1 3.19E-05
15495 16 A/D 25 rs376839162 0.2012 None gnomAD-4.0.0 2.05469E-06
15495 16 A/T 25 rs537428006 0.2012 None gnomAD-2.1.1 1.05152E-04
15495 16 A/T 25 rs537428006 0.2012 None gnomAD-3.1.2 1.32E-05
15495 16 A/T 25 rs537428006 0.2012 None gnomAD-4.0.0 5.335E-05
15496 17 D/V 26 rs755301020 0.5242 None gnomAD-4.0.0 2.40064E-06
15497 18 V/A 28 rs2057998545 0.1563 None gnomAD-4.0.0 3.18911E-06
15497 18 V/F 28 rs371299188 0.1563 None gnomAD-2.1.1 8.49E-05
15497 18 V/F 28 rs371299188 0.1563 None gnomAD-3.1.2 5.27E-05
15497 18 V/F 28 rs371299188 0.1563 None 1000 genomes 5.99042E-04
15497 18 V/F 28 rs371299188 0.1563 None gnomAD-4.0.0 3.22538E-05
15499 20 F/V 30 None 0.1026 None gnomAD-4.0.0 1.5945E-06
15500 21 L/S 31 rs529804754 0.2963 None gnomAD-2.1.1 4.04E-06
15500 21 L/S 31 rs529804754 0.2963 None gnomAD-3.1.2 6.58E-06
15500 21 L/S 31 rs529804754 0.2963 None 1000 genomes 1.99681E-04
15500 21 L/S 31 rs529804754 0.2963 None gnomAD-4.0.0 6.57817E-06
15501 22 A/T 33 None 0.0714 None gnomAD-4.0.0 1.59457E-06
15501 22 A/V 33 None 0.0714 None gnomAD-4.0.0 1.59458E-06
15502 23 E/K 34 None 0.2852 None gnomAD-4.0.0 6.84809E-07
15502 23 E/Q 34 rs2057996369 0.2852 None gnomAD-4.0.0 6.84809E-07
15503 24 L/V 35 None 0.1138 None gnomAD-4.0.0 1.20032E-06
15504 25 N/S 38 rs1184631064 0.3291 None gnomAD-2.1.1 8.07E-06
15504 25 N/S 38 rs1184631064 0.3291 None gnomAD-3.1.2 1.32E-05
15504 25 N/S 38 rs1184631064 0.3291 None gnomAD-4.0.0 6.82305E-06
15506 27 D/H 41 rs755611206 0.4294 None gnomAD-2.1.1 1.07E-05
15506 27 D/H 41 rs755611206 0.4294 None gnomAD-3.1.2 2.63E-05
15506 27 D/H 41 rs755611206 0.4294 None gnomAD-4.0.0 3.28747E-05
15506 27 D/V 41 rs748069813 0.4294 None gnomAD-2.1.1 4.03E-06
15506 27 D/V 41 rs748069813 0.4294 None gnomAD-4.0.0 1.59429E-06
15506 27 D/Y 41 rs755611206 0.4294 None gnomAD-4.0.0 6.84772E-07
15507 28 K/N 43 rs781291079 0.8549 None gnomAD-2.1.1 8.07E-06
15507 28 K/N 43 rs781291079 0.8549 None gnomAD-4.0.0 3.42382E-06
15510 31 V/L 46 rs754751783 0.2561 None gnomAD-2.1.1 4.03E-06
15510 31 V/L 46 rs754751783 0.2561 None gnomAD-4.0.0 3.18814E-06
15512 33 W/R 48 None 0.1394 None gnomAD-4.0.0 1.20033E-06
15517 38 M/T 55 rs1349699547 0.7575 None gnomAD-2.1.1 4.03E-06
15517 38 M/T 55 rs1349699547 0.7575 None gnomAD-4.0.0 1.36942E-06
15517 38 M/V 55 rs751464964 0.7575 None gnomAD-2.1.1 1.61E-05
15517 38 M/V 55 rs751464964 0.7575 None gnomAD-4.0.0 9.56376E-06
15518 39 V/A 56 None 0.5247 None gnomAD-4.0.0 1.59394E-06
15518 39 V/F 56 None 0.5247 None gnomAD-4.0.0 1.20033E-06
15518 39 V/I 56 None 0.5247 None gnomAD-4.0.0 1.20033E-06
15519 40 V/I 58 rs1277355095 0.1834 None gnomAD-2.1.1 4.03E-06
15519 40 V/I 58 rs1277355095 0.1834 None gnomAD-4.0.0 1.36941E-06
15520 41 V/F 59 rs2057990397 0.7361 None gnomAD-4.0.0 1.59391E-06
15521 42 Q/K 70 rs758692633 0.4599 None gnomAD-2.1.1 1.07E-05
15521 42 Q/K 70 rs758692633 0.4599 None gnomAD-3.1.2 1.32E-05
15521 42 Q/K 70 rs758692633 0.4599 None gnomAD-4.0.0 1.31837E-05
15522 43 G/R 73 rs750435043 0.2689 None gnomAD-2.1.1 3.22E-05
15522 43 G/R 73 rs750435043 0.2689 None gnomAD-3.1.2 2.64E-05
15522 43 G/R 73 rs750435043 0.2689 None gnomAD-4.0.0 8.12541E-05
15522 43 G/V 73 rs1246339782 0.2689 None gnomAD-4.0.0 1.59392E-06
15523 44 D/E 111 rs1553713980 1.0724 None gnomAD-4.0.0 1.4345E-05
15524 45 K/E 115 rs548285460 0.2139 None gnomAD-4.0.0 1.20033E-06
15525 46 H/R 121 rs1313832139 0.2656 None gnomAD-3.1.2 6.59E-06
15525 46 H/R 121 rs1313832139 0.2656 None gnomAD-4.0.0 2.03062E-06
15525 46 H/Y 121 rs1413462312 0.2656 None gnomAD-2.1.1 8.06E-06
15525 46 H/Y 121 rs1413462312 0.2656 None gnomAD-4.0.0 1.5938E-06
15526 47 Q/L 122 None 0.3575 None gnomAD-4.0.0 1.5938E-06
15527 48 M/I 123 rs1310174493 0.2074 None gnomAD-2.1.1 9.57E-05
15527 48 M/I 123 rs1310174493 0.2074 None gnomAD-3.1.2 1.98E-05
15527 48 M/I 123 rs1310174493 0.2074 None gnomAD-4.0.0 4.3416E-06
15527 48 M/K 123 rs77496539 0.2074 None gnomAD-2.1.1 1.2084E-04
15527 48 M/K 123 rs77496539 0.2074 None gnomAD-3.1.2 7.91E-05
15527 48 M/K 123 rs77496539 0.2074 None 1000 genomes 9.98403E-04
15527 48 M/K 123 rs77496539 0.2074 None gnomAD-4.0.0 1.47602E-04
15527 48 M/L 123 None 0.2074 None gnomAD-4.0.0 1.59382E-06
15527 48 M/R 123 None 0.2074 None gnomAD-4.0.0 6.84686E-07
15528 49 M/L 125 None 0.4352 None gnomAD-4.0.0 3.18777E-06
15529 50 S/N 127 None 0.5105 None gnomAD-4.0.0 6.84693E-07
15531 52 G/R 131 rs761815745 0.3598 None gnomAD-2.1.1 3.63E-05
15531 52 G/R 131 rs761815745 0.3598 None gnomAD-3.1.2 6.59E-06
15531 52 G/R 131 rs761815745 0.3598 None gnomAD-4.0.0 6.58918E-06
15533 54 I/L 135 rs1406271344 0.3425 None gnomAD-2.1.1 4.03E-06
15533 54 I/L 135 rs1406271344 0.3425 None gnomAD-4.0.0 1.5939E-06
15533 54 I/T 135 rs777059640 0.3425 None gnomAD-2.1.1 4.03E-06
15533 54 I/T 135 rs777059640 0.3425 None gnomAD-3.1.2 6.59E-06
15533 54 I/T 135 rs777059640 0.3425 None gnomAD-4.0.0 1.86067E-06
15533 54 I/V 135 None 0.3425 None gnomAD-4.0.0 1.5939E-06
15535 56 R/Q 137 rs761015674 0.4025 None gnomAD-2.1.1 2.02E-05
15535 56 R/Q 137 rs761015674 0.4025 None gnomAD-4.0.0 1.36449E-05
15536 57 L/Q 138 rs775884428 0.0730 None gnomAD-2.1.1 2.42E-05
15536 57 L/Q 138 rs775884428 0.0730 None gnomAD-4.0.0 8.9016E-06
15540 61 D/G 143 rs1184454225 0.4316 None gnomAD-3.1.2 6.58E-06
15540 61 D/G 143 rs1184454225 0.4316 None gnomAD-4.0.0 2.567E-06
15541 62 I/M 144 rs2057981019 0.0703 None gnomAD-3.1.2 6.59E-06
15541 62 I/M 144 rs2057981019 0.0703 None gnomAD-4.0.0 6.58536E-06
15543 64 P/S 146 None 0.3672 None gnomAD-4.0.0 1.59436E-06
15543 64 P/T 146 None 0.3672 None gnomAD-4.0.0 1.59436E-06
15544 65 R/C 148 rs748932192 0.6711 None gnomAD-2.1.1 4.44E-05
15544 65 R/C 148 rs748932192 0.6711 None gnomAD-3.1.2 6.59E-06
15544 65 R/C 148 rs748932192 0.6711 None gnomAD-4.0.0 1.24062E-05
15544 65 R/H 148 rs772760901 0.6711 None gnomAD-2.1.1 2.02E-05
15544 65 R/H 148 rs772760901 0.6711 None gnomAD-4.0.0 5.47836E-06
15544 65 R/L 148 None 0.6711 None gnomAD-4.0.0 6.84795E-07
15545 66 D/E 149 None 0.1351 None gnomAD-4.0.0 2.40064E-06
15546 67 Q/E 151 None 0.2192 None gnomAD-4.0.0 1.59456E-06
15546 67 Q/H 151 None 0.2192 None gnomAD-4.0.0 1.59453E-06
15546 67 Q/P 151 rs2057979047 0.2192 None gnomAD-3.1.2 6.58E-06
15546 67 Q/P 151 rs2057979047 0.2192 None gnomAD-4.0.0 6.58354E-06
15547 68 G/D 152 None 0.2454 None gnomAD-4.0.0 2.05445E-06
15547 68 G/R 152 rs769290450 0.2454 None gnomAD-4.0.0 6.84818E-07
15547 68 G/S 152 rs769290450 0.2454 None gnomAD-2.1.1 4.03E-06
15547 68 G/S 152 rs769290450 0.2454 None gnomAD-4.0.0 3.42409E-06
15548 69 E/A 153 None 0.4012 None gnomAD-4.0.0 6.84835E-07
15548 69 E/Q 153 rs1364430603 0.4012 None gnomAD-3.1.2 6.58E-06
15548 69 E/Q 153 rs1364430603 0.4012 None gnomAD-4.0.0 6.58458E-06
15548 69 E/V 153 rs1281939698 0.4012 None gnomAD-2.1.1 4.04E-06
15548 69 E/V 153 rs1281939698 0.4012 None gnomAD-4.0.0 6.84835E-07
15549 70 Y/H 154 None 0.1049 None gnomAD-4.0.0 1.59465E-06
15550 71 R/I 155 rs1229831088 0.2710 None gnomAD-2.1.1 4.04E-06
15550 71 R/I 155 rs1229831088 0.2710 None gnomAD-4.0.0 6.84868E-07
15550 71 R/T 155 None 0.2710 None gnomAD-4.0.0 6.84868E-07
15551 72 F/L 156 None 0.0932 None gnomAD-4.0.0 1.20032E-06
15551 72 F/Y 156 rs1329504399 0.0932 None gnomAD-2.1.1 4.04E-06
15551 72 F/Y 156 rs1329504399 0.0932 None gnomAD-4.0.0 1.59486E-06
15552 73 I/T 157 rs1292128337 0.2443 None gnomAD-2.1.1 4.04E-06
15552 73 I/T 157 rs1292128337 0.2443 None gnomAD-4.0.0 3.18972E-06
15555 76 D/H 161 None 0.6162 None gnomAD-4.0.0 6.84902E-07
15555 76 D/N 161 rs754162662 0.6162 None gnomAD-4.0.0 6.84902E-07
15556 77 K/E 162 rs747614888 0.3060 None gnomAD-2.1.1 8.07E-06
15556 77 K/E 162 rs747614888 0.3060 None gnomAD-3.1.2 6.58E-06
15556 77 K/E 162 rs747614888 0.3060 None gnomAD-4.0.0 8.68537E-06
15556 77 K/R 162 None 0.3060 None gnomAD-4.0.0 1.59509E-06
15557 78 E/D 163 None 0.5704 None gnomAD-4.0.0 1.59527E-06
15557 78 E/K 163 None 0.5704 None gnomAD-4.0.0 6.84954E-07
15560 81 A/G 172 rs2057972776 0.0906 None gnomAD-3.1.2 6.58E-06
15560 81 A/G 172 rs2057972776 0.0906 None gnomAD-4.0.0 6.58467E-06
15561 82 K/N 173 None 0.5280 None gnomAD-4.0.0 1.20032E-06
15562 83 L/F 174 rs755020461 0.1085 None gnomAD-2.1.1 1.62E-05
15562 83 L/F 174 rs755020461 0.1085 None gnomAD-3.1.2 6.58E-06
15562 83 L/F 174 rs755020461 0.1085 None gnomAD-4.0.0 3.10251E-06
15562 83 L/V 174 rs755020461 0.1085 None gnomAD-3.1.2 6.58E-06
15562 83 L/V 174 rs755020461 0.1085 None gnomAD-4.0.0 8.68702E-06
15565 86 A/S 178 rs145520397 0.1869 None gnomAD-2.1.1 6.06953E-04
15565 86 A/S 178 rs145520397 0.1869 None gnomAD-3.1.2 1.81698E-03
15565 86 A/S 178 rs145520397 0.1869 None 1000 genomes 1.19808E-03
15565 86 A/S 178 rs145520397 0.1869 None gnomAD-4.0.0 3.525E-04