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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7515 1 P/R 1 None 0.1161 None gnomAD-4.0.0 2.40065E-06
7516 2 F/S 2 rs2078474988 0.4766 None gnomAD-3.1.2 6.57E-06
7516 2 F/S 2 rs2078474988 0.4766 None gnomAD-4.0.0 6.57194E-06
7518 4 D/E 4 None 0.3406 None gnomAD-4.0.0 1.69609E-06
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-2.1.1 1.85E-05
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-3.1.2 6.57E-06
7518 4 D/V 4 rs749008105 0.3406 None gnomAD-4.0.0 1.08031E-05
7519 5 I/F 5 rs146608139 0.4613 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-2.1.1 4.56E-06
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-3.1.2 1.31E-05
7519 5 I/L 5 rs146608139 0.4613 None 1000 genomes 3.99361E-04
7519 5 I/L 5 rs146608139 0.4613 None gnomAD-4.0.0 4.43996E-06
7520 6 K/N 7 None 0.5984 None gnomAD-4.0.0 7.00172E-07
7520 6 K/T 7 None 0.5984 None gnomAD-4.0.0 1.20032E-06
7521 7 P/A 8 rs752570029 0.1913 None gnomAD-4.0.0 6.99683E-07
7521 7 P/L 8 None 0.1913 None gnomAD-4.0.0 6.99264E-07
7521 7 P/S 8 rs752570029 0.1913 None gnomAD-2.1.1 4.44E-06
7521 7 P/T 8 None 0.1913 None gnomAD-4.0.0 6.99684E-07
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-2.1.1 3.18E-05
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-3.1.2 6.57E-06
7522 8 V/G 9 rs1387361909 0.7558 None gnomAD-4.0.0 3.75455E-06
7522 8 V/L 9 None 0.7558 None gnomAD-4.0.0 2.07638E-06
7524 10 I/T 13 None 0.2315 None gnomAD-4.0.0 1.61251E-06
7524 10 I/V 13 None 0.2315 None gnomAD-4.0.0 3.22771E-06
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-2.1.1 6.58E-05
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-3.1.2 4.6E-05
7525 11 D/E 14 rs200061856 0.5483 None gnomAD-4.0.0 3.29919E-05
7525 11 D/H 14 None 0.5483 None gnomAD-4.0.0 2.06407E-06
7526 12 V/D 16 None 0.1796 None gnomAD-4.0.0 1.60858E-06
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-2.1.1 4.1E-05
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-3.1.2 5.91E-05
7526 12 V/F 16 rs754972548 0.1796 None gnomAD-4.0.0 7.90152E-05
7529 15 G/V 24 rs1194135723 0.3393 None gnomAD-4.0.0 1.59981E-06
7531 17 S/C 26 None 0.3553 None gnomAD-4.0.0 1.59752E-06
7531 17 S/I 26 None 0.3553 None gnomAD-4.0.0 6.85399E-07
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-2.1.1 2.16E-05
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-3.1.2 7.89E-05
7531 17 S/N 26 rs267599060 0.3553 None gnomAD-4.0.0 1.73786E-05
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-2.1.1 4.05E-06
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-3.1.2 6.57E-06
7533 19 D/N 29 rs371762361 0.3269 None gnomAD-4.0.0 6.57151E-06
7534 20 F/C 30 None 0.1127 None gnomAD-4.0.0 6.84951E-07
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-2.1.1 8.49E-05
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-3.1.2 1.97E-05
7534 20 F/Y 30 rs551521928 0.1127 None 1000 genomes 3.99361E-04
7534 20 F/Y 30 rs551521928 0.1127 None gnomAD-4.0.0 2.29491E-05
7535 21 E/G 31 rs773956492 0.5229 None gnomAD-4.0.0 6.00161E-06
7539 25 T/N 38 rs879209114 0.3488 None gnomAD-4.0.0 1.20032E-06
7541 27 A/P 41 rs2078459574 0.2229 None gnomAD-4.0.0 1.30054E-05
7542 28 Q/P 42 None 0.5113 None gnomAD-4.0.0 1.59226E-06
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-2.1.1 1.04575E-04
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-3.1.2 2.63E-05
7543 29 P/L 43 rs560272834 0.8153 None gnomAD-4.0.0 3.65695E-05
7543 29 P/Q 43 None 0.8153 None gnomAD-4.0.0 6.84406E-07
7543 29 P/T 43 None 0.8153 None gnomAD-4.0.0 2.7376E-06
7544 30 M/K 44 None 0.2003 None gnomAD-4.0.0 1.36872E-06
7544 30 M/L 44 rs2078457617 0.2003 None gnomAD-3.1.2 2.63E-05
7544 30 M/L 44 rs2078457617 0.2003 None gnomAD-4.0.0 3.71886E-06
7544 30 M/T 44 rs1234192175 0.2003 None gnomAD-4.0.0 6.8436E-07
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-2.1.1 2.11743E-03
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-3.1.2 1.90634E-03
7545 31 R/Q 45 rs72648969 0.7317 None 1000 genomes 1.99681E-04
7545 31 R/Q 45 rs72648969 0.7317 None gnomAD-4.0.0 3.03338E-03
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-2.1.1 4.02E-06
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-3.1.2 6.57E-06
7547 33 T/S 47 rs1437517914 0.3962 None gnomAD-4.0.0 2.56298E-06
7548 34 W/C 48 rs775685171 0.1401 None gnomAD-2.1.1 4.02E-06
7548 34 W/L 48 None 0.1401 None gnomAD-4.0.0 6.84417E-07
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-2.1.1 3.19E-05
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-3.1.2 6.57E-06
7550 36 K/N 50 rs1460815999 0.1259 None gnomAD-4.0.0 4.33862E-06
7550 36 K/Q 50 rs772516390 0.1259 None gnomAD-2.1.1 4.02E-06
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-2.1.1 2.01E-05
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-3.1.2 6.57E-06
7551 37 D/E 51 rs371736246 0.4247 None gnomAD-4.0.0 9.91682E-06
7551 37 D/V 51 None 0.4247 None gnomAD-4.0.0 1.20032E-06
7551 37 D/Y 51 None 0.4247 None gnomAD-4.0.0 1.59202E-06
7552 38 N/D 52 rs1171381654 0.9569 None gnomAD-2.1.1 4.02E-06
7552 38 N/D 52 rs1171381654 0.9569 None gnomAD-4.0.0 1.59195E-06
7554 40 E/D 56 rs879075975 0.6636 None gnomAD-4.0.0 1.36866E-06
7555 41 I/L 58 None 0.1275 None gnomAD-4.0.0 1.59188E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-2.1.1 4.02E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-3.1.2 6.57E-06
7555 41 I/V 58 rs747649130 0.1275 None gnomAD-4.0.0 6.57212E-06
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-2.1.1 8.93E-05
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-3.1.2 5.26E-05
7556 42 R/C 59 rs754885396 0.8455 None gnomAD-4.0.0 2.5413E-05
7556 42 R/G 59 None 0.8455 None gnomAD-4.0.0 6.84332E-07
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-2.1.1 9.63E-05
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-3.1.2 9.2E-05
7556 42 R/H 59 rs374344734 0.8455 None gnomAD-4.0.0 6.50793E-05
7556 42 R/L 59 rs374344734 0.8455 None gnomAD-2.1.1 4.02E-06
7556 42 R/L 59 rs374344734 0.8455 None gnomAD-4.0.0 1.36865E-06
7556 42 R/S 59 rs754885396 0.8455 None gnomAD-2.1.1 8.04E-06
7556 42 R/S 59 rs754885396 0.8455 None gnomAD-4.0.0 2.05299E-06
7557 43 P/T 70 rs758231381 0.6511 None gnomAD-2.1.1 8.04E-06
7557 43 P/T 70 rs758231381 0.6511 None gnomAD-4.0.0 6.36752E-06
7558 44 G/R 73 None 0.4575 None gnomAD-4.0.0 1.20032E-06
7558 44 G/V 73 rs886055294 0.4575 None gnomAD-2.1.1 8.04E-06
7558 44 G/V 73 rs886055294 0.4575 None gnomAD-4.0.0 2.73727E-06
7559 45 G/E 111 rs2078443515 0.6874 None gnomAD-4.0.0 1.59178E-06
7560 46 N/D 115 None 0.2480 None gnomAD-4.0.0 1.59173E-06
7561 47 Y/C 121 rs786205544 0.2594 None gnomAD-3.1.2 6.57E-06
7561 47 Y/C 121 rs786205544 0.2594 None gnomAD-4.0.0 2.47909E-06
7561 47 Y/H 121 None 0.2594 None gnomAD-4.0.0 1.71075E-05
7562 48 T/I 122 rs1553909660 0.4427 None gnomAD-3.1.2 1.31E-05
7562 48 T/I 122 rs1553909660 0.4427 None gnomAD-4.0.0 1.31439E-05
7562 48 T/R 122 None 0.4427 None gnomAD-4.0.0 1.5918E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-2.1.1 4.02E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-3.1.2 6.57E-06
7563 49 I/F 123 rs1321824189 0.2631 None gnomAD-4.0.0 1.36352E-05
7563 49 I/M 123 rs1060500529 0.2631 None gnomAD-3.1.2 1.97E-05
7563 49 I/M 123 rs1060500529 0.2631 None gnomAD-4.0.0 1.97226E-05
7563 49 I/N 123 None 0.2631 None gnomAD-4.0.0 1.20032E-06
7563 49 I/V 123 None 0.2631 None gnomAD-4.0.0 6.84302E-07
7565 51 C/F 127 rs753947699 0.3476 None gnomAD-4.0.0 6.84313E-07
7565 51 C/R 127 rs757611239 0.3476 None gnomAD-4.0.0 3.42152E-06
7565 51 C/S 127 rs757611239 0.3476 None gnomAD-2.1.1 4.02E-06
7565 51 C/S 127 rs757611239 0.3476 None gnomAD-4.0.0 6.84303E-07
7565 51 C/Y 127 None 0.3476 None gnomAD-4.0.0 6.84313E-07
7567 53 G/A 131 rs764311341 0.5021 None gnomAD-4.0.0 6.84327E-07
7567 53 G/E 131 rs764311341 0.5021 None gnomAD-4.0.0 1.36865E-06
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-2.1.1 3.19E-05
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-3.1.2 6.57E-06
7569 55 T/I 135 rs1198203479 0.2466 None gnomAD-4.0.0 6.57237E-06
7570 56 P/A 136 None 0.1298 None gnomAD-4.0.0 6.84332E-07
7570 56 P/H 136 rs1444461312 0.1298 None gnomAD-2.1.1 4.02E-06
7570 56 P/H 136 rs1444461312 0.1298 None gnomAD-4.0.0 1.59191E-06
7570 56 P/T 136 None 0.1298 None gnomAD-4.0.0 6.84332E-07
7571 57 H/P 137 rs776085388 0.2446 None gnomAD-2.1.1 4.02E-06
7571 57 H/P 137 rs776085388 0.2446 None gnomAD-4.0.0 1.59188E-06
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-2.1.1 3.19E-05
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-3.1.2 6.57E-06
7571 57 H/Y 137 rs1483207603 0.2446 None gnomAD-4.0.0 6.5722E-06
7572 58 L/S 138 rs759949024 0.0676 None gnomAD-2.1.1 4.02E-06
7572 58 L/S 138 rs759949024 0.0676 None gnomAD-4.0.0 6.84338E-07
7572 58 L/V 138 None 0.0676 None gnomAD-4.0.0 6.84317E-07
7573 59 R/S 139 None 0.4009 None gnomAD-4.0.0 6.84324E-07
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-2.1.1 3.19E-05
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-3.1.2 1.97E-05
7574 60 I/V 140 rs1017841481 0.0767 None gnomAD-4.0.0 4.05965E-06
7575 61 L/P 141 None 0.4452 None gnomAD-4.0.0 1.20032E-06
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-2.1.1 1.43E-05
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-3.1.2 1.97E-05
7575 61 L/V 141 rs774759859 0.4452 None gnomAD-4.0.0 7.68898E-06
7576 62 K/I 143 None 0.6938 None gnomAD-4.0.0 6.84323E-07
7578 64 G/R 145 rs775145999 0.2516 None gnomAD-2.1.1 1.21E-05
7578 64 G/R 145 rs775145999 0.2516 None gnomAD-4.0.0 1.77926E-05
7579 65 K/N 146 None 0.9932 None gnomAD-4.0.0 1.20032E-06
7579 65 K/R 146 rs2078428721 0.9932 None gnomAD-4.0.0 1.59185E-06
7580 66 G/R 148 rs1215151938 0.4278 None gnomAD-3.1.2 6.57E-06
7580 66 G/R 148 rs1215151938 0.4278 None gnomAD-4.0.0 2.02989E-06
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-2.1.1 1.21E-05
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-3.1.2 1.31E-05
7581 67 D/E 149 rs540314973 0.1843 None 1000 genomes 1.99681E-04
7581 67 D/E 149 rs540314973 0.1843 None gnomAD-4.0.0 5.12558E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-2.1.1 4.02E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-3.1.2 6.57E-06
7581 67 D/N 149 rs1433348204 0.1843 None gnomAD-4.0.0 1.23963E-06
7581 67 D/V 149 None 0.1843 None gnomAD-4.0.0 1.59201E-06
7581 67 D/Y 149 rs1433348204 0.1843 None gnomAD-3.1.2 6.57E-06
7581 67 D/Y 149 rs1433348204 0.1843 None gnomAD-4.0.0 6.81795E-06
7582 68 S/C 151 rs768179623 0.3163 None gnomAD-2.1.1 2.41E-05
7582 68 S/C 151 rs768179623 0.3163 None gnomAD-4.0.0 1.02655E-05
7584 70 Q/L 153 rs530109283 0.4961 None gnomAD-3.1.2 6.57E-06
7584 70 Q/L 153 rs530109283 0.4961 None 1000 genomes 1.99681E-04
7584 70 Q/L 153 rs530109283 0.4961 None gnomAD-4.0.0 6.5653E-06
7584 70 Q/R 153 rs530109283 0.4961 None gnomAD-3.1.2 6.57E-06
7584 70 Q/R 153 rs530109283 0.4961 None gnomAD-4.0.0 2.02982E-06
7585 71 Y/C 154 None 0.0925 None gnomAD-4.0.0 1.20032E-06
7586 72 T/I 155 None 0.1967 None gnomAD-4.0.0 2.40064E-06
7589 75 A/V 158 None 0.0868 None gnomAD-4.0.0 1.5928E-06
7590 76 T/A 159 None 0.3032 None gnomAD-4.0.0 1.20032E-06
7590 76 T/N 159 rs1486219064 0.3032 None gnomAD-3.1.2 6.57E-06
7590 76 T/N 159 rs1486219064 0.3032 None gnomAD-4.0.0 6.57142E-06
7591 77 N/S 161 rs368750726 0.1354 None gnomAD-2.1.1 8.06E-06
7591 77 N/S 161 rs368750726 0.1354 None gnomAD-3.1.2 1.97E-05
7591 77 N/S 161 rs368750726 0.1354 None gnomAD-4.0.0 1.2399E-05
7591 77 N/T 161 rs368750726 0.1354 None gnomAD-2.1.1 4.03E-06
7592 78 D/E 162 None 0.6600 None gnomAD-4.0.0 6.84583E-07
7593 79 V/A 163 rs758335261 0.4046 None gnomAD-2.1.1 4.03E-06
7593 79 V/A 163 rs758335261 0.4046 None gnomAD-4.0.0 1.59349E-06
7594 80 G/D 164 None 0.2118 None gnomAD-4.0.0 1.59456E-06
7594 80 G/V 164 None 0.2118 None gnomAD-4.0.0 1.59456E-06
7595 81 K/Q 165 None 0.6893 None gnomAD-4.0.0 1.59404E-06
7595 81 K/R 165 rs2078423913 0.6893 None gnomAD-4.0.0 1.59412E-06
7596 82 D/E 166 None 0.2300 None gnomAD-4.0.0 1.59471E-06
7596 82 D/H 166 rs72648970 0.2300 None gnomAD-2.1.1 2.80405E-02
7596 82 D/H 166 rs72648970 0.2300 None gnomAD-3.1.2 2.43494E-02
7596 82 D/H 166 rs72648970 0.2300 None 1000 genomes 2.01677E-02
7596 82 D/H 166 rs72648970 0.2300 None gnomAD-4.0.0 3.37577E-02
7596 82 D/N 166 None 0.2300 None gnomAD-4.0.0 6.84868E-07
7596 82 D/Y 166 rs72648970 0.2300 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.4586 None gnomAD-2.1.1 4.04E-06
7597 83 M/K 168 rs1265324107 0.4586 None gnomAD-4.0.0 1.36975E-06
7597 83 M/L 168 None 0.4586 None gnomAD-4.0.0 1.20033E-06
7597 83 M/T 168 None 0.4586 None gnomAD-4.0.0 2.7395E-06
7598 84 C/S 169 rs1316768329 0.0978 None gnomAD-2.1.1 4.05E-06
7598 84 C/S 169 rs1316768329 0.0978 None gnomAD-4.0.0 1.59652E-06
7599 85 S/L 171 None 0.3457 None gnomAD-4.0.0 1.59696E-06
7599 85 S/P 171 None 0.3457 None gnomAD-4.0.0 1.5965E-06
7600 86 A/S 172 rs757523256 0.1070 None gnomAD-2.1.1 1.22E-05
7600 86 A/S 172 rs757523256 0.1070 None gnomAD-4.0.0 4.79971E-06
7600 86 A/T 172 None 0.1070 None gnomAD-4.0.0 1.5999E-06
7600 86 A/V 172 None 0.1070 None gnomAD-4.0.0 1.59886E-06
7601 87 Q/P 173 None 0.2669 None gnomAD-4.0.0 6.86339E-07
7602 88 L/F 174 rs754142672 0.0922 None gnomAD-2.1.1 4.08E-06
7602 88 L/F 174 rs754142672 0.0922 None gnomAD-4.0.0 3.21054E-06
7603 89 S/G 175 None 0.2962 None gnomAD-4.0.0 6.92636E-07
7603 89 S/I 175 rs777949804 0.2962 None gnomAD-2.1.1 4.19E-06
7603 89 S/I 175 rs777949804 0.2962 None gnomAD-4.0.0 4.85413E-06