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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8361 2 F/L 2 rs1553901979 0.3687 None gnomAD-4.0.0 6.87138E-07
8363 4 A/E 4 rs778129279 0.3537 None gnomAD-2.1.1 4.12E-06
8363 4 A/E 4 rs778129279 0.3537 None gnomAD-4.0.0 3.21451E-06
8363 4 A/G 4 rs778129279 0.3537 None gnomAD-2.1.1 4.12E-06
8363 4 A/G 4 rs778129279 0.3537 None gnomAD-4.0.0 1.60726E-06
8363 4 A/P 4 rs200972189 0.3537 None gnomAD-2.1.1 1.1E-05
8363 4 A/P 4 rs200972189 0.3537 None gnomAD-3.1.2 1.97E-05
8363 4 A/P 4 rs200972189 0.3537 None gnomAD-4.0.0 1.49324E-05
8363 4 A/S 4 rs200972189 0.3537 None gnomAD-2.1.1 2.44767E-04
8363 4 A/S 4 rs200972189 0.3537 None gnomAD-3.1.2 7.89038E-04
8363 4 A/S 4 rs200972189 0.3537 None 1000 genomes 9.98403E-04
8363 4 A/S 4 rs200972189 0.3537 None gnomAD-4.0.0 1.41847E-04
8363 4 A/V 4 None 0.3537 None gnomAD-4.0.0 1.60726E-06
8365 6 K/N 7 rs2077715561 0.7197 None gnomAD-3.1.2 6.57E-06
8365 6 K/N 7 rs2077715561 0.7197 None gnomAD-4.0.0 6.84128E-06
8365 6 K/T 7 rs2077715930 0.7197 None gnomAD-3.1.2 6.57E-06
8365 6 K/T 7 rs2077715930 0.7197 None gnomAD-4.0.0 5.16261E-06
8366 7 L/P 8 None 0.1572 None gnomAD-4.0.0 1.60519E-06
8367 8 K/E 9 rs1390057796 0.8572 None gnomAD-2.1.1 3.19E-05
8367 8 K/E 9 rs1390057796 0.8572 None gnomAD-3.1.2 6.57E-06
8367 8 K/E 9 rs1390057796 0.8572 None gnomAD-4.0.0 1.24343E-06
8367 8 K/R 9 None 0.8572 None gnomAD-4.0.0 1.60483E-06
8368 9 D/E 11 rs369089044 0.5355 None gnomAD-2.1.1 3.29E-05
8368 9 D/E 11 rs369089044 0.5355 None gnomAD-3.1.2 3.29E-05
8368 9 D/E 11 rs369089044 0.5355 None gnomAD-4.0.0 3.79157E-05
8369 10 V/F 13 rs755722481 0.2210 None gnomAD-2.1.1 4.11E-06
8369 10 V/F 13 rs755722481 0.2210 None gnomAD-3.1.2 6.57E-06
8369 10 V/F 13 rs755722481 0.2210 None gnomAD-4.0.0 1.05641E-05
8369 10 V/I 13 rs755722481 0.2210 None gnomAD-3.1.2 6.57E-06
8369 10 V/I 13 rs755722481 0.2210 None gnomAD-4.0.0 6.83558E-06
8370 11 H/Q 14 None 0.7084 None gnomAD-4.0.0 3.42986E-06
8370 11 H/R 14 rs1439210373 0.7084 None gnomAD-2.1.1 4.09E-06
8370 11 H/R 14 rs1439210373 0.7084 None gnomAD-4.0.0 5.48595E-06
8372 13 T/A 18 rs762359298 0.3442 None gnomAD-2.1.1 4.07E-06
8372 13 T/A 18 rs762359298 0.3442 None gnomAD-4.0.0 2.40064E-06
8372 13 T/S 18 rs762359298 0.3442 None gnomAD-2.1.1 4.07E-06
8376 17 P/S 26 rs375209098 0.4498 None gnomAD-2.1.1 1.11539E-04
8376 17 P/S 26 rs375209098 0.4498 None gnomAD-3.1.2 1.11758E-04
8376 17 P/S 26 rs375209098 0.4498 None gnomAD-4.0.0 1.22752E-04
8377 18 V/A 28 None 0.1537 None gnomAD-4.0.0 1.36895E-06
8378 19 A/V 29 None 0.3586 None gnomAD-4.0.0 1.36897E-06
8379 20 F/S 30 rs761873646 0.1148 None gnomAD-2.1.1 4.05E-06
8382 23 R/C 34 rs776519143 0.2824 None gnomAD-2.1.1 6.07E-05
8382 23 R/C 34 rs776519143 0.2824 None gnomAD-3.1.2 6.58E-06
8382 23 R/C 34 rs776519143 0.2824 None gnomAD-4.0.0 1.48784E-05
8382 23 R/H 34 rs199598066 0.2824 None gnomAD-2.1.1 2.15706E-04
8382 23 R/H 34 rs199598066 0.2824 None gnomAD-3.1.2 9.2E-05
8382 23 R/H 34 rs199598066 0.2824 None gnomAD-4.0.0 1.45686E-04
8382 23 R/S 34 rs776519143 0.2824 None gnomAD-4.0.0 4.1067E-06
8383 24 I/M 35 rs555511234 0.0752 None gnomAD-3.1.2 6.57E-06
8383 24 I/M 35 rs555511234 0.0752 None 1000 genomes 1.99681E-04
8383 24 I/M 35 rs555511234 0.0752 None gnomAD-4.0.0 1.23968E-06
8383 24 I/T 35 rs760613642 0.0752 None gnomAD-2.1.1 4.86E-05
8383 24 I/T 35 rs760613642 0.0752 None gnomAD-3.1.2 6.57E-06
8383 24 I/T 35 rs760613642 0.0752 None gnomAD-4.0.0 1.85958E-05
8383 24 I/V 35 rs886038829 0.0752 None gnomAD-2.1.1 8.09E-06
8383 24 I/V 35 rs886038829 0.0752 None gnomAD-4.0.0 3.18468E-06
8384 25 N/H 38 None 0.3101 None gnomAD-4.0.0 4.77702E-06
8384 25 N/S 38 rs1191447167 0.3101 None gnomAD-2.1.1 4.04E-06
8384 25 N/S 38 rs1191447167 0.3101 None gnomAD-4.0.0 3.18466E-06
8385 26 G/A 40 rs775560531 0.2007 None gnomAD-2.1.1 2.02E-05
8385 26 G/A 40 rs775560531 0.2007 None gnomAD-3.1.2 6.58E-06
8385 26 G/A 40 rs775560531 0.2007 None gnomAD-4.0.0 1.42573E-05
8385 26 G/C 40 None 0.2007 None gnomAD-4.0.0 4.79094E-06
8385 26 G/S 40 rs1479989590 0.2007 None gnomAD-2.1.1 4.04E-06
8385 26 G/S 40 rs1479989590 0.2007 None gnomAD-4.0.0 1.36884E-06
8387 28 E/G 42 None 0.8894 None gnomAD-4.0.0 1.59212E-06
8388 29 P/A 43 None 0.5907 None gnomAD-4.0.0 6.8438E-07
8388 29 P/L 43 rs745902643 0.5907 None gnomAD-2.1.1 4.04E-06
8388 29 P/L 43 rs745902643 0.5907 None gnomAD-4.0.0 4.10631E-06
8388 29 P/R 43 None 0.5907 None gnomAD-4.0.0 4.79069E-06
8388 29 P/S 43 rs727503647 0.5907 None gnomAD-2.1.1 2.02E-05
8388 29 P/S 43 rs727503647 0.5907 None gnomAD-4.0.0 4.10628E-06
8388 29 P/T 43 rs727503647 0.5907 None gnomAD-3.1.2 6.57E-06
8388 29 P/T 43 rs727503647 0.5907 None gnomAD-4.0.0 2.4794E-06
8390 31 Q/H 45 None 0.7297 None gnomAD-4.0.0 2.40064E-06
8390 31 Q/L 45 None 0.7297 None gnomAD-4.0.0 1.20032E-06
8391 32 V/G 46 None 0.2660 None gnomAD-4.0.0 1.20032E-06
8393 34 W/L 48 None 0.1230 None gnomAD-4.0.0 1.20032E-06
8394 35 Y/C 49 None 0.2795 None gnomAD-4.0.0 4.10614E-06
8394 35 Y/D 49 rs898098652 0.2795 None gnomAD-2.1.1 1.07E-05
8394 35 Y/D 49 rs898098652 0.2795 None gnomAD-3.1.2 2.63E-05
8394 35 Y/D 49 rs898098652 0.2795 None gnomAD-4.0.0 2.85116E-05
8394 35 Y/H 49 rs898098652 0.2795 None gnomAD-2.1.1 4.04E-06
8394 35 Y/H 49 rs898098652 0.2795 None gnomAD-4.0.0 6.84351E-07
8395 36 K/E 50 None 0.1363 None gnomAD-4.0.0 1.59208E-06
8396 37 D/N 51 rs771290213 0.5302 None gnomAD-2.1.1 4.04E-06
8396 37 D/N 51 rs771290213 0.5302 None gnomAD-3.1.2 6.57E-06
8396 37 D/N 51 rs771290213 0.5302 None gnomAD-4.0.0 2.56338E-06
8397 38 G/V 52 rs1371524855 0.4442 None gnomAD-4.0.0 4.77629E-06
8398 39 V/A 55 None 0.6135 None gnomAD-4.0.0 1.59207E-06
8398 39 V/I 55 None 0.6135 None gnomAD-2.1.1 2.15E-05
8398 39 V/I 55 None 0.6135 None gnomAD-3.1.2 6.57E-06
8398 39 V/I 55 None 0.6135 None gnomAD-4.0.0 4.9587E-06
8398 39 V/L 55 rs535933745 0.6135 None gnomAD-2.1.1 1.07E-05
8398 39 V/L 55 rs535933745 0.6135 None gnomAD-3.1.2 1.31E-05
8398 39 V/L 55 rs535933745 0.6135 None 1000 genomes 1.99681E-04
8398 39 V/L 55 rs535933745 0.6135 None gnomAD-4.0.0 1.31378E-05
8399 40 L/I 56 rs375788467 0.4557 None gnomAD-4.0.0 1.59208E-06
8399 40 L/P 56 rs2077698375 0.4557 None gnomAD-4.0.0 2.40064E-06
8399 40 L/V 56 rs375788467 0.4557 None gnomAD-2.1.1 2.15E-05
8399 40 L/V 56 rs375788467 0.4557 None gnomAD-3.1.2 3.29E-05
8399 40 L/V 56 rs375788467 0.4557 None gnomAD-4.0.0 1.40987E-05
8400 41 L/W 58 None 0.2071 None gnomAD-4.0.0 1.20032E-06
8401 42 K/N 69 rs1172962931 0.8730 None gnomAD-2.1.1 4.03E-06
8401 42 K/N 69 rs1172962931 0.8730 None gnomAD-4.0.0 1.59209E-06
8401 42 K/T 69 rs753121966 0.8730 None gnomAD-2.1.1 4.03E-06
8401 42 K/T 69 rs753121966 0.8730 None gnomAD-4.0.0 1.5921E-06
8402 43 D/G 70 rs954211095 0.5405 None gnomAD-4.0.0 1.59208E-06
8402 43 D/N 70 None 0.5405 None gnomAD-4.0.0 1.20032E-06
8403 44 D/G 73 rs758110981 0.4299 None gnomAD-2.1.1 8.07E-06
8403 44 D/G 73 rs758110981 0.4299 None gnomAD-4.0.0 2.73746E-06
8403 44 D/V 73 None 0.4299 None gnomAD-4.0.0 6.84364E-07
8403 44 D/Y 73 rs779553584 0.4299 None gnomAD-2.1.1 8.07E-06
8403 44 D/Y 73 rs779553584 0.4299 None gnomAD-3.1.2 6.57E-06
8403 44 D/Y 73 rs779553584 0.4299 None gnomAD-4.0.0 5.12681E-06
8404 45 A/S 102 rs1418140235 0.7436 None gnomAD-2.1.1 4.03E-06
8404 45 A/S 102 rs1418140235 0.7436 None gnomAD-4.0.0 1.59222E-06
8405 46 N/K 115 rs371923232 0.2661 None gnomAD-3.1.2 1.31E-05
8405 46 N/K 115 rs371923232 0.2661 None gnomAD-4.0.0 1.11566E-05
8406 47 L/M 121 rs1183682062 0.1728 None gnomAD-2.1.1 4.03E-06
8406 47 L/M 121 rs1183682062 0.1728 None gnomAD-4.0.0 1.5921E-06
8407 48 Q/H 122 rs1381783502 0.4443 None gnomAD-3.1.2 6.57E-06
8407 48 Q/H 122 rs1381783502 0.4443 None gnomAD-4.0.0 3.84524E-06
8408 49 T/I 123 rs201432372 0.3167 None gnomAD-2.1.1 3.08038E-04
8408 49 T/I 123 rs201432372 0.3167 None gnomAD-3.1.2 7.42971E-04
8408 49 T/I 123 rs201432372 0.3167 None 1000 genomes 1.99681E-04
8408 49 T/I 123 rs201432372 0.3167 None gnomAD-4.0.0 1.35743E-04
8409 50 S/P 125 None 0.3938 None gnomAD-4.0.0 1.20032E-06
8409 50 S/T 125 None 0.3938 None gnomAD-4.0.0 2.40064E-06
8409 50 S/Y 125 rs764182857 0.3938 None gnomAD-2.1.1 4.04E-06
8409 50 S/Y 125 rs764182857 0.3938 None gnomAD-4.0.0 4.7769E-06
8410 51 F/L 127 None 0.2867 None gnomAD-4.0.0 1.59225E-06
8411 52 V/I 130 rs760523669 0.5705 None gnomAD-2.1.1 6.06E-05
8411 52 V/I 130 rs760523669 0.5705 None gnomAD-3.1.2 5.26E-05
8411 52 V/I 130 rs760523669 0.5705 None gnomAD-4.0.0 4.21531E-05
8412 53 H/R 131 rs775392484 0.8587 None gnomAD-2.1.1 2.15E-05
8412 53 H/R 131 rs775392484 0.8587 None gnomAD-3.1.2 5.26E-05
8412 53 H/R 131 rs775392484 0.8587 None gnomAD-4.0.0 7.43843E-06
8412 53 H/Y 131 rs1256940513 0.8587 None gnomAD-2.1.1 4.04E-06
8412 53 H/Y 131 rs1256940513 0.8587 None gnomAD-3.1.2 6.57E-06
8412 53 H/Y 131 rs1256940513 0.8587 None gnomAD-4.0.0 2.56397E-06
8413 54 N/K 134 rs772142595 0.2654 None gnomAD-2.1.1 8.08E-06
8413 54 N/K 134 rs772142595 0.2654 None gnomAD-4.0.0 3.1847E-06
8413 54 N/Y 134 rs971543383 0.2654 None gnomAD-3.1.2 6.57E-06
8413 54 N/Y 134 rs971543383 0.2654 None gnomAD-4.0.0 2.56372E-06
8414 55 V/A 135 rs759822411 0.1778 None gnomAD-2.1.1 4.04E-06
8414 55 V/A 135 rs759822411 0.1778 None gnomAD-4.0.0 1.36884E-06
8416 57 T/I 137 rs794729631 0.2185 None gnomAD-2.1.1 1.08E-05
8416 57 T/I 137 rs794729631 0.2185 None gnomAD-3.1.2 6.57E-06
8416 57 T/I 137 rs794729631 0.2185 None gnomAD-4.0.0 5.12746E-06
8417 58 L/F 138 rs774234445 0.0742 None gnomAD-2.1.1 4.04E-06
8417 58 L/F 138 rs774234445 0.0742 None gnomAD-4.0.0 4.7774E-06
8418 59 Q/H 139 rs750071508 0.4746 None gnomAD-2.1.1 1.79E-05
8418 59 Q/H 139 rs750071508 0.4746 None gnomAD-3.1.2 1.97E-05
8418 59 Q/H 139 rs750071508 0.4746 None gnomAD-4.0.0 3.42222E-06
8420 61 L/S 141 None 0.3893 None gnomAD-4.0.0 2.40064E-06
8424 65 Q/E 146 rs370668637 0.5600 None gnomAD-3.1.2 6.57E-06
8424 65 Q/E 146 rs370668637 0.5600 None gnomAD-4.0.0 3.40963E-05
8425 66 S/N 148 rs13390491 0.4170 None gnomAD-2.1.1 1.75539E-01
8425 66 S/N 148 rs13390491 0.4170 None gnomAD-3.1.2 1.67878E-01
8425 66 S/N 148 rs13390491 0.4170 None 1000 genomes 2.4381E-01
8425 66 S/N 148 rs13390491 0.4170 None gnomAD-4.0.0 1.63811E-01
8426 67 H/Q 149 rs1409245989 0.2092 None gnomAD-2.1.1 4.04E-06
8426 67 H/Q 149 rs1409245989 0.2092 None gnomAD-4.0.0 1.59252E-06
8427 68 I/T 151 rs2077682451 0.3651 None gnomAD-4.0.0 1.59243E-06
8427 68 I/V 151 rs748483075 0.3651 None gnomAD-2.1.1 1.21E-05
8427 68 I/V 151 rs748483075 0.3651 None gnomAD-3.1.2 6.57E-06
8427 68 I/V 151 rs748483075 0.3651 None gnomAD-4.0.0 1.54967E-05
8429 70 Q/R 153 rs757938943 0.3834 None gnomAD-2.1.1 8.08E-06
8429 70 Q/R 153 rs757938943 0.3834 None gnomAD-3.1.2 1.31E-05
8429 70 Q/R 153 rs757938943 0.3834 None gnomAD-4.0.0 9.91837E-06
8430 71 Y/C 154 rs2077680471 0.1068 None gnomAD-3.1.2 6.57E-06
8430 71 Y/C 154 rs2077680471 0.1068 None gnomAD-4.0.0 2.02987E-06
8430 71 Y/H 154 None 0.1068 None gnomAD-4.0.0 1.36893E-06
8432 73 C/Y 156 None 0.0685 None gnomAD-4.0.0 6.84526E-07
8433 74 S/C 157 None 0.2276 None gnomAD-4.0.0 6.84549E-07
8436 77 N/T 161 None 0.1201 None gnomAD-4.0.0 1.20033E-06
8437 78 P/L 162 rs1560631696 0.6268 None gnomAD-4.0.0 6.84728E-07
8437 78 P/R 162 rs1560631696 0.6268 None gnomAD-4.0.0 6.84728E-07
8439 80 G/R 164 rs1177073291 0.2514 None gnomAD-4.0.0 6.84901E-07
8440 81 T/S 165 rs778495825 0.7372 None gnomAD-2.1.1 4.05E-06
8440 81 T/S 165 rs778495825 0.7372 None gnomAD-4.0.0 1.59543E-06
8441 82 A/V 166 rs2077677779 0.2237 None gnomAD-4.0.0 1.59961E-06
8442 83 S/L 168 rs1560631528 0.5075 None gnomAD-2.1.1 4.07E-06
8442 83 S/L 168 rs1560631528 0.5075 None gnomAD-4.0.0 2.74397E-06
8443 84 S/A 169 rs753445241 0.1267 None gnomAD-2.1.1 4.07E-06
8443 84 S/A 169 rs753445241 0.1267 None gnomAD-4.0.0 6.86063E-07
8443 84 S/T 169 None 0.1267 None gnomAD-4.0.0 1.37213E-06
8444 85 S/G 171 rs547641733 0.3439 None gnomAD-2.1.1 8.17E-06
8444 85 S/G 171 rs547641733 0.3439 None gnomAD-3.1.2 1.31E-05
8444 85 S/G 171 rs547641733 0.3439 None 1000 genomes 1.99681E-04
8444 85 S/G 171 rs547641733 0.3439 None gnomAD-4.0.0 1.2913E-05
8446 87 K/E 173 None 0.5135 None gnomAD-4.0.0 1.61293E-06
8447 88 L/F 174 None 0.1155 None gnomAD-4.0.0 1.20033E-06
8448 89 I/T 175 rs2077674998 0.4147 None gnomAD-3.1.2 6.57E-06
8448 89 I/T 175 rs2077674998 0.4147 None gnomAD-4.0.0 6.57108E-06
8449 90 L/F 177 None 0.2368 None gnomAD-4.0.0 3.25305E-06
8449 90 L/P 177 rs756148326 0.2368 None gnomAD-2.1.1 4.18E-06
8449 90 L/P 177 rs756148326 0.2368 None gnomAD-4.0.0 1.62817E-06
8449 90 L/V 177 rs1299720002 0.2368 None gnomAD-3.1.2 6.57E-06
8449 90 L/V 177 rs1299720002 0.2368 None gnomAD-4.0.0 2.60757E-06