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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8361 2 F/L 2 rs1553901979 0.4387 None gnomAD-4.0.0 6.87138E-07
8363 4 A/E 4 rs778129279 0.4060 None gnomAD-2.1.1 4.12E-06
8363 4 A/E 4 rs778129279 0.4060 None gnomAD-4.0.0 3.21451E-06
8363 4 A/G 4 rs778129279 0.4060 None gnomAD-2.1.1 4.12E-06
8363 4 A/G 4 rs778129279 0.4060 None gnomAD-4.0.0 1.60726E-06
8363 4 A/P 4 rs200972189 0.4060 None gnomAD-2.1.1 1.1E-05
8363 4 A/P 4 rs200972189 0.4060 None gnomAD-3.1.2 1.97E-05
8363 4 A/P 4 rs200972189 0.4060 None gnomAD-4.0.0 1.49324E-05
8363 4 A/S 4 rs200972189 0.4060 None gnomAD-2.1.1 2.44767E-04
8363 4 A/S 4 rs200972189 0.4060 None gnomAD-3.1.2 7.89038E-04
8363 4 A/S 4 rs200972189 0.4060 None 1000 genomes 9.98403E-04
8363 4 A/S 4 rs200972189 0.4060 None gnomAD-4.0.0 1.41847E-04
8363 4 A/V 4 None 0.4060 None gnomAD-4.0.0 1.60726E-06
8365 6 K/N 7 rs2077715561 0.6912 None gnomAD-3.1.2 6.57E-06
8365 6 K/N 7 rs2077715561 0.6912 None gnomAD-4.0.0 6.84128E-06
8365 6 K/T 7 rs2077715930 0.6912 None gnomAD-3.1.2 6.57E-06
8365 6 K/T 7 rs2077715930 0.6912 None gnomAD-4.0.0 5.16261E-06
8366 7 L/P 8 None 0.1742 None gnomAD-4.0.0 1.60519E-06
8367 8 K/E 9 rs1390057796 0.8578 None gnomAD-2.1.1 3.19E-05
8367 8 K/E 9 rs1390057796 0.8578 None gnomAD-3.1.2 6.57E-06
8367 8 K/E 9 rs1390057796 0.8578 None gnomAD-4.0.0 1.24343E-06
8367 8 K/R 9 None 0.8578 None gnomAD-4.0.0 1.60483E-06
8368 9 D/E 11 rs369089044 0.4974 None gnomAD-2.1.1 3.29E-05
8368 9 D/E 11 rs369089044 0.4974 None gnomAD-3.1.2 3.29E-05
8368 9 D/E 11 rs369089044 0.4974 None gnomAD-4.0.0 3.79157E-05
8369 10 V/F 13 rs755722481 0.2382 None gnomAD-2.1.1 4.11E-06
8369 10 V/F 13 rs755722481 0.2382 None gnomAD-3.1.2 6.57E-06
8369 10 V/F 13 rs755722481 0.2382 None gnomAD-4.0.0 1.05641E-05
8369 10 V/I 13 rs755722481 0.2382 None gnomAD-3.1.2 6.57E-06
8369 10 V/I 13 rs755722481 0.2382 None gnomAD-4.0.0 6.83558E-06
8370 11 H/Q 14 None 0.7249 None gnomAD-4.0.0 3.42986E-06
8370 11 H/R 14 rs1439210373 0.7249 None gnomAD-2.1.1 4.09E-06
8370 11 H/R 14 rs1439210373 0.7249 None gnomAD-4.0.0 5.48595E-06
8372 13 T/A 18 rs762359298 0.2190 None gnomAD-2.1.1 4.07E-06
8372 13 T/A 18 rs762359298 0.2190 None gnomAD-4.0.0 2.40064E-06
8372 13 T/S 18 rs762359298 0.2190 None gnomAD-2.1.1 4.07E-06
8376 17 P/S 26 rs375209098 0.5011 None gnomAD-2.1.1 1.11539E-04
8376 17 P/S 26 rs375209098 0.5011 None gnomAD-3.1.2 1.11758E-04
8376 17 P/S 26 rs375209098 0.5011 None gnomAD-4.0.0 1.22752E-04
8377 18 V/A 28 None 0.1734 None gnomAD-4.0.0 1.36895E-06
8378 19 A/V 29 None 0.3551 None gnomAD-4.0.0 1.36897E-06
8379 20 F/S 30 rs761873646 0.1220 None gnomAD-2.1.1 4.05E-06
8382 23 R/C 34 rs776519143 0.2669 None gnomAD-2.1.1 6.07E-05
8382 23 R/C 34 rs776519143 0.2669 None gnomAD-3.1.2 6.58E-06
8382 23 R/C 34 rs776519143 0.2669 None gnomAD-4.0.0 1.48784E-05
8382 23 R/H 34 rs199598066 0.2669 None gnomAD-2.1.1 2.15706E-04
8382 23 R/H 34 rs199598066 0.2669 None gnomAD-3.1.2 9.2E-05
8382 23 R/H 34 rs199598066 0.2669 None gnomAD-4.0.0 1.45686E-04
8382 23 R/S 34 rs776519143 0.2669 None gnomAD-4.0.0 4.1067E-06
8383 24 I/M 35 rs555511234 0.0855 None gnomAD-3.1.2 6.57E-06
8383 24 I/M 35 rs555511234 0.0855 None 1000 genomes 1.99681E-04
8383 24 I/M 35 rs555511234 0.0855 None gnomAD-4.0.0 1.23968E-06
8383 24 I/T 35 rs760613642 0.0855 None gnomAD-2.1.1 4.86E-05
8383 24 I/T 35 rs760613642 0.0855 None gnomAD-3.1.2 6.57E-06
8383 24 I/T 35 rs760613642 0.0855 None gnomAD-4.0.0 1.85958E-05
8383 24 I/V 35 rs886038829 0.0855 None gnomAD-2.1.1 8.09E-06
8383 24 I/V 35 rs886038829 0.0855 None gnomAD-4.0.0 3.18468E-06
8384 25 N/H 38 None 0.3514 None gnomAD-4.0.0 4.77702E-06
8384 25 N/S 38 rs1191447167 0.3514 None gnomAD-2.1.1 4.04E-06
8384 25 N/S 38 rs1191447167 0.3514 None gnomAD-4.0.0 3.18466E-06
8385 26 G/A 40 rs775560531 0.2894 None gnomAD-2.1.1 2.02E-05
8385 26 G/A 40 rs775560531 0.2894 None gnomAD-3.1.2 6.58E-06
8385 26 G/A 40 rs775560531 0.2894 None gnomAD-4.0.0 1.42573E-05
8385 26 G/C 40 None 0.2894 None gnomAD-4.0.0 4.79094E-06
8385 26 G/S 40 rs1479989590 0.2894 None gnomAD-2.1.1 4.04E-06
8385 26 G/S 40 rs1479989590 0.2894 None gnomAD-4.0.0 1.36884E-06
8387 28 E/G 42 None 0.7818 None gnomAD-4.0.0 1.59212E-06
8388 29 P/A 43 None 0.6618 None gnomAD-4.0.0 6.8438E-07
8388 29 P/L 43 rs745902643 0.6618 None gnomAD-2.1.1 4.04E-06
8388 29 P/L 43 rs745902643 0.6618 None gnomAD-4.0.0 4.10631E-06
8388 29 P/R 43 None 0.6618 None gnomAD-4.0.0 4.79069E-06
8388 29 P/S 43 rs727503647 0.6618 None gnomAD-2.1.1 2.02E-05
8388 29 P/S 43 rs727503647 0.6618 None gnomAD-4.0.0 4.10628E-06
8388 29 P/T 43 rs727503647 0.6618 None gnomAD-3.1.2 6.57E-06
8388 29 P/T 43 rs727503647 0.6618 None gnomAD-4.0.0 2.4794E-06
8390 31 Q/H 45 None 0.7040 None gnomAD-4.0.0 2.40064E-06
8390 31 Q/L 45 None 0.7040 None gnomAD-4.0.0 1.20032E-06
8391 32 V/G 46 None 0.2559 None gnomAD-4.0.0 1.20032E-06
8393 34 W/L 48 None 0.1222 None gnomAD-4.0.0 1.20032E-06
8394 35 Y/C 49 None 0.2710 None gnomAD-4.0.0 4.10614E-06
8394 35 Y/D 49 rs898098652 0.2710 None gnomAD-2.1.1 1.07E-05
8394 35 Y/D 49 rs898098652 0.2710 None gnomAD-3.1.2 2.63E-05
8394 35 Y/D 49 rs898098652 0.2710 None gnomAD-4.0.0 2.85116E-05
8394 35 Y/H 49 rs898098652 0.2710 None gnomAD-2.1.1 4.04E-06
8394 35 Y/H 49 rs898098652 0.2710 None gnomAD-4.0.0 6.84351E-07
8395 36 K/E 50 None 0.1251 None gnomAD-4.0.0 1.59208E-06
8396 37 D/N 51 rs771290213 0.5481 None gnomAD-2.1.1 4.04E-06
8396 37 D/N 51 rs771290213 0.5481 None gnomAD-3.1.2 6.57E-06
8396 37 D/N 51 rs771290213 0.5481 None gnomAD-4.0.0 2.56338E-06
8397 38 G/V 52 rs1371524855 0.4390 None gnomAD-4.0.0 4.77629E-06
8398 39 V/A 55 None 0.6271 None gnomAD-4.0.0 1.59207E-06
8398 39 V/I 55 None 0.6271 None gnomAD-2.1.1 2.15E-05
8398 39 V/I 55 None 0.6271 None gnomAD-3.1.2 6.57E-06
8398 39 V/I 55 None 0.6271 None gnomAD-4.0.0 4.9587E-06
8398 39 V/L 55 rs535933745 0.6271 None gnomAD-2.1.1 1.07E-05
8398 39 V/L 55 rs535933745 0.6271 None gnomAD-3.1.2 1.31E-05
8398 39 V/L 55 rs535933745 0.6271 None 1000 genomes 1.99681E-04
8398 39 V/L 55 rs535933745 0.6271 None gnomAD-4.0.0 1.31378E-05
8399 40 L/I 56 rs375788467 0.4516 None gnomAD-4.0.0 1.59208E-06
8399 40 L/P 56 rs2077698375 0.4516 None gnomAD-4.0.0 2.40064E-06
8399 40 L/V 56 rs375788467 0.4516 None gnomAD-2.1.1 2.15E-05
8399 40 L/V 56 rs375788467 0.4516 None gnomAD-3.1.2 3.29E-05
8399 40 L/V 56 rs375788467 0.4516 None gnomAD-4.0.0 1.40987E-05
8400 41 L/W 58 None 0.2055 None gnomAD-4.0.0 1.20032E-06
8401 42 K/N 69 rs1172962931 0.8567 None gnomAD-2.1.1 4.03E-06
8401 42 K/N 69 rs1172962931 0.8567 None gnomAD-4.0.0 1.59209E-06
8401 42 K/T 69 rs753121966 0.8567 None gnomAD-2.1.1 4.03E-06
8401 42 K/T 69 rs753121966 0.8567 None gnomAD-4.0.0 1.5921E-06
8402 43 D/G 70 rs954211095 0.5580 None gnomAD-4.0.0 1.59208E-06
8402 43 D/N 70 None 0.5580 None gnomAD-4.0.0 1.20032E-06
8403 44 D/G 73 rs758110981 0.4428 None gnomAD-2.1.1 8.07E-06
8403 44 D/G 73 rs758110981 0.4428 None gnomAD-4.0.0 2.73746E-06
8403 44 D/V 73 None 0.4428 None gnomAD-4.0.0 6.84364E-07
8403 44 D/Y 73 rs779553584 0.4428 None gnomAD-2.1.1 8.07E-06
8403 44 D/Y 73 rs779553584 0.4428 None gnomAD-3.1.2 6.57E-06
8403 44 D/Y 73 rs779553584 0.4428 None gnomAD-4.0.0 5.12681E-06
8404 45 A/S 102 rs1418140235 0.7833 None gnomAD-2.1.1 4.03E-06
8404 45 A/S 102 rs1418140235 0.7833 None gnomAD-4.0.0 1.59222E-06
8405 46 N/K 115 rs371923232 0.2334 None gnomAD-3.1.2 1.31E-05
8405 46 N/K 115 rs371923232 0.2334 None gnomAD-4.0.0 1.11566E-05
8406 47 L/M 121 rs1183682062 0.1667 None gnomAD-2.1.1 4.03E-06
8406 47 L/M 121 rs1183682062 0.1667 None gnomAD-4.0.0 1.5921E-06
8407 48 Q/H 122 rs1381783502 0.4334 None gnomAD-3.1.2 6.57E-06
8407 48 Q/H 122 rs1381783502 0.4334 None gnomAD-4.0.0 3.84524E-06
8408 49 T/I 123 rs201432372 0.3170 None gnomAD-2.1.1 3.08038E-04
8408 49 T/I 123 rs201432372 0.3170 None gnomAD-3.1.2 7.42971E-04
8408 49 T/I 123 rs201432372 0.3170 None 1000 genomes 1.99681E-04
8408 49 T/I 123 rs201432372 0.3170 None gnomAD-4.0.0 1.35743E-04
8409 50 S/P 125 None 0.3466 None gnomAD-4.0.0 1.20032E-06
8409 50 S/T 125 None 0.3466 None gnomAD-4.0.0 2.40064E-06
8409 50 S/Y 125 rs764182857 0.3466 None gnomAD-2.1.1 4.04E-06
8409 50 S/Y 125 rs764182857 0.3466 None gnomAD-4.0.0 4.7769E-06
8410 51 F/L 127 None 0.2993 None gnomAD-4.0.0 1.59225E-06
8411 52 V/I 130 rs760523669 0.5451 None gnomAD-2.1.1 6.06E-05
8411 52 V/I 130 rs760523669 0.5451 None gnomAD-3.1.2 5.26E-05
8411 52 V/I 130 rs760523669 0.5451 None gnomAD-4.0.0 4.21531E-05
8412 53 H/R 131 rs775392484 0.8982 None gnomAD-2.1.1 2.15E-05
8412 53 H/R 131 rs775392484 0.8982 None gnomAD-3.1.2 5.26E-05
8412 53 H/R 131 rs775392484 0.8982 None gnomAD-4.0.0 7.43843E-06
8412 53 H/Y 131 rs1256940513 0.8982 None gnomAD-2.1.1 4.04E-06
8412 53 H/Y 131 rs1256940513 0.8982 None gnomAD-3.1.2 6.57E-06
8412 53 H/Y 131 rs1256940513 0.8982 None gnomAD-4.0.0 2.56397E-06
8413 54 N/K 134 rs772142595 0.3046 None gnomAD-2.1.1 8.08E-06
8413 54 N/K 134 rs772142595 0.3046 None gnomAD-4.0.0 3.1847E-06
8413 54 N/Y 134 rs971543383 0.3046 None gnomAD-3.1.2 6.57E-06
8413 54 N/Y 134 rs971543383 0.3046 None gnomAD-4.0.0 2.56372E-06
8414 55 V/A 135 rs759822411 0.2008 None gnomAD-2.1.1 4.04E-06
8414 55 V/A 135 rs759822411 0.2008 None gnomAD-4.0.0 1.36884E-06
8416 57 T/I 137 rs794729631 0.2265 None gnomAD-2.1.1 1.08E-05
8416 57 T/I 137 rs794729631 0.2265 None gnomAD-3.1.2 6.57E-06
8416 57 T/I 137 rs794729631 0.2265 None gnomAD-4.0.0 5.12746E-06
8417 58 L/F 138 rs774234445 0.0689 None gnomAD-2.1.1 4.04E-06
8417 58 L/F 138 rs774234445 0.0689 None gnomAD-4.0.0 4.7774E-06
8418 59 Q/H 139 rs750071508 0.5513 None gnomAD-2.1.1 1.79E-05
8418 59 Q/H 139 rs750071508 0.5513 None gnomAD-3.1.2 1.97E-05
8418 59 Q/H 139 rs750071508 0.5513 None gnomAD-4.0.0 3.42222E-06
8420 61 L/S 141 None 0.4295 None gnomAD-4.0.0 2.40064E-06
8424 65 Q/E 146 rs370668637 0.5884 None gnomAD-3.1.2 6.57E-06
8424 65 Q/E 146 rs370668637 0.5884 None gnomAD-4.0.0 3.40963E-05
8425 66 S/N 148 rs13390491 0.4048 None gnomAD-2.1.1 1.75539E-01
8425 66 S/N 148 rs13390491 0.4048 None gnomAD-3.1.2 1.67878E-01
8425 66 S/N 148 rs13390491 0.4048 None 1000 genomes 2.4381E-01
8425 66 S/N 148 rs13390491 0.4048 None gnomAD-4.0.0 1.63811E-01
8426 67 H/Q 149 rs1409245989 0.2087 None gnomAD-2.1.1 4.04E-06
8426 67 H/Q 149 rs1409245989 0.2087 None gnomAD-4.0.0 1.59252E-06
8427 68 I/T 151 rs2077682451 0.3693 None gnomAD-4.0.0 1.59243E-06
8427 68 I/V 151 rs748483075 0.3693 None gnomAD-2.1.1 1.21E-05
8427 68 I/V 151 rs748483075 0.3693 None gnomAD-3.1.2 6.57E-06
8427 68 I/V 151 rs748483075 0.3693 None gnomAD-4.0.0 1.54967E-05
8429 70 Q/R 153 rs757938943 0.3714 None gnomAD-2.1.1 8.08E-06
8429 70 Q/R 153 rs757938943 0.3714 None gnomAD-3.1.2 1.31E-05
8429 70 Q/R 153 rs757938943 0.3714 None gnomAD-4.0.0 9.91837E-06
8430 71 Y/C 154 rs2077680471 0.1089 None gnomAD-3.1.2 6.57E-06
8430 71 Y/C 154 rs2077680471 0.1089 None gnomAD-4.0.0 2.02987E-06
8430 71 Y/H 154 None 0.1089 None gnomAD-4.0.0 1.36893E-06
8432 73 C/Y 156 None 0.0720 None gnomAD-4.0.0 6.84526E-07
8433 74 S/C 157 None 0.2081 None gnomAD-4.0.0 6.84549E-07
8436 77 N/T 161 None 0.1362 None gnomAD-4.0.0 1.20033E-06
8437 78 P/L 162 rs1560631696 0.6988 None gnomAD-4.0.0 6.84728E-07
8437 78 P/R 162 rs1560631696 0.6988 None gnomAD-4.0.0 6.84728E-07
8439 80 G/R 164 rs1177073291 0.2315 None gnomAD-4.0.0 6.84901E-07
8440 81 T/S 165 rs778495825 0.7242 None gnomAD-2.1.1 4.05E-06
8440 81 T/S 165 rs778495825 0.7242 None gnomAD-4.0.0 1.59543E-06
8441 82 A/V 166 rs2077677779 0.2174 None gnomAD-4.0.0 1.59961E-06
8442 83 S/L 168 rs1560631528 0.4520 None gnomAD-2.1.1 4.07E-06
8442 83 S/L 168 rs1560631528 0.4520 None gnomAD-4.0.0 2.74397E-06
8443 84 S/A 169 rs753445241 0.1392 None gnomAD-2.1.1 4.07E-06
8443 84 S/A 169 rs753445241 0.1392 None gnomAD-4.0.0 6.86063E-07
8443 84 S/T 169 None 0.1392 None gnomAD-4.0.0 1.37213E-06
8444 85 S/G 171 rs547641733 0.3556 None gnomAD-2.1.1 8.17E-06
8444 85 S/G 171 rs547641733 0.3556 None gnomAD-3.1.2 1.31E-05
8444 85 S/G 171 rs547641733 0.3556 None 1000 genomes 1.99681E-04
8444 85 S/G 171 rs547641733 0.3556 None gnomAD-4.0.0 1.2913E-05
8446 87 K/E 173 None 0.4297 None gnomAD-4.0.0 1.61293E-06
8447 88 L/F 174 None 0.1439 None gnomAD-4.0.0 1.20033E-06
8448 89 I/T 175 rs2077674998 0.4438 None gnomAD-3.1.2 6.57E-06
8448 89 I/T 175 rs2077674998 0.4438 None gnomAD-4.0.0 6.57108E-06
8449 90 L/F 177 None 0.2095 None gnomAD-4.0.0 3.25305E-06
8449 90 L/P 177 rs756148326 0.2095 None gnomAD-2.1.1 4.18E-06
8449 90 L/P 177 rs756148326 0.2095 None gnomAD-4.0.0 1.62817E-06
8449 90 L/V 177 rs1299720002 0.2095 None gnomAD-3.1.2 6.57E-06
8449 90 L/V 177 rs1299720002 0.2095 None gnomAD-4.0.0 2.60757E-06