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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14586 1 P/A 1 rs2059766641 0.4842 None gnomAD-3.1.2 6.58E-06
14586 1 P/A 1 rs2059766641 0.4842 None gnomAD-4.0.0 5.17106E-06
14586 1 P/T 1 None 0.4842 None gnomAD-4.0.0 1.60865E-06
14587 2 Y/H 2 rs774085986 0.5200 None gnomAD-2.1.1 1.84E-05
14587 2 Y/H 2 rs774085986 0.5200 None gnomAD-3.1.2 6.57E-06
14587 2 Y/H 2 rs774085986 0.5200 None gnomAD-4.0.0 8.70502E-06
14589 4 T/I 4 rs1171658402 0.3383 None gnomAD-2.1.1 8.28E-06
14589 4 T/I 4 rs1171658402 0.3383 None gnomAD-3.1.2 1.97E-05
14589 4 T/I 4 rs1171658402 0.3383 None gnomAD-4.0.0 6.21555E-06
14590 5 G/R 5 None 0.1870 None gnomAD-4.0.0 7.54763E-06
14592 7 L/F 8 rs1480406198 0.1314 None gnomAD-2.1.1 4.11E-06
14592 7 L/F 8 rs1480406198 0.1314 None gnomAD-4.0.0 5.48673E-06
14594 9 D/G 11 None 0.5145 None gnomAD-4.0.0 3.19667E-06
14596 11 T/A 14 rs770795900 0.6103 None gnomAD-2.1.1 4.08E-06
14596 11 T/A 14 rs770795900 0.6103 None gnomAD-4.0.0 4.79126E-06
14596 11 T/I 14 None 0.6103 None gnomAD-4.0.0 2.40068E-06
14596 11 T/S 14 None 0.6103 None gnomAD-4.0.0 1.20034E-06
14599 14 E/A 23 None 0.4543 None gnomAD-4.0.0 6.84963E-07
14599 14 E/G 23 rs918346918 0.4543 None gnomAD-4.0.0 6.84963E-07
14599 14 E/K 23 None 0.4543 None gnomAD-4.0.0 4.79484E-06
14599 14 E/Q 23 rs879113246 0.4543 None gnomAD-3.1.2 1.31E-05
14599 14 E/Q 23 rs879113246 0.4543 None gnomAD-4.0.0 2.48139E-06
14600 15 K/E 24 rs543588487 0.5481 None gnomAD-2.1.1 1.44E-05
14600 15 K/E 24 rs543588487 0.5481 None gnomAD-3.1.2 1.32E-05
14600 15 K/E 24 rs543588487 0.5481 None 1000 genomes 1.99681E-04
14600 15 K/E 24 rs543588487 0.5481 None gnomAD-4.0.0 6.41722E-06
14600 15 K/N 24 rs769967388 0.5481 None gnomAD-4.0.0 2.05463E-06
14601 16 D/E 25 rs748236664 0.5999 None gnomAD-2.1.1 4.06E-06
14601 16 D/E 25 rs748236664 0.5999 None gnomAD-4.0.0 1.59455E-06
14603 18 V/I 28 rs2154220273 0.1425 None gnomAD-4.0.0 3.18894E-06
14605 20 L/I 30 rs1251970273 0.1323 None gnomAD-2.1.1 4.05E-06
14605 20 L/I 30 rs1251970273 0.1323 None gnomAD-4.0.0 2.05409E-06
14605 20 L/P 30 None 0.1323 None gnomAD-4.0.0 1.20032E-06
14607 22 C/R 33 None 0.0759 None gnomAD-4.0.0 1.20032E-06
14607 22 C/Y 33 rs781427869 0.0759 None gnomAD-2.1.1 1.21E-05
14607 22 C/Y 33 rs781427869 0.0759 None gnomAD-3.1.2 6.58E-06
14607 22 C/Y 33 rs781427869 0.0759 None gnomAD-4.0.0 5.58056E-06
14609 24 I/L 35 None 0.0832 None gnomAD-4.0.0 1.20032E-06
14610 25 S/R 38 None 0.1689 None gnomAD-4.0.0 1.36913E-06
14612 27 A/E 41 rs965521601 0.3322 None gnomAD-2.1.1 6.38E-05
14612 27 A/E 41 rs965521601 0.3322 None gnomAD-3.1.2 1.32E-05
14612 27 A/E 41 rs965521601 0.3322 None gnomAD-4.0.0 1.67398E-05
14615 30 P/L 45 rs1281092990 0.7386 None gnomAD-2.1.1 4.04E-06
14615 30 P/L 45 rs1281092990 0.7386 None gnomAD-4.0.0 2.05345E-06
14616 31 V/A 46 None 0.2747 None gnomAD-4.0.0 6.16008E-06
14618 33 W/L 48 None 0.1478 None gnomAD-4.0.0 6.84456E-07
14618 33 W/R 48 rs1307996353 0.1478 None gnomAD-3.1.2 6.58E-06
14618 33 W/R 48 rs1307996353 0.1478 None gnomAD-4.0.0 6.5773E-06
14619 34 F/I 49 None 0.2137 None gnomAD-4.0.0 1.36891E-06
14619 34 F/L 49 rs202179380 0.2137 None gnomAD-3.1.2 1.31E-05
14619 34 F/L 49 rs202179380 0.2137 None gnomAD-4.0.0 6.84455E-07
14620 35 K/N 50 rs1235935495 0.1384 None gnomAD-3.1.2 6.57E-06
14620 35 K/N 50 rs1235935495 0.1384 None gnomAD-4.0.0 1.23982E-06
14620 35 K/T 50 None 0.1384 None gnomAD-4.0.0 1.20032E-06
14621 36 D/N 51 rs374032491 0.5459 None gnomAD-2.1.1 7.66E-05
14621 36 D/N 51 rs374032491 0.5459 None gnomAD-3.1.2 6.57E-06
14621 36 D/N 51 rs374032491 0.5459 None gnomAD-4.0.0 2.97557E-05
14623 38 K/R 55 None 0.8000 None gnomAD-4.0.0 1.59244E-06
14626 41 K/R 59 rs2059753756 0.8518 None gnomAD-4.0.0 6.00161E-06
14626 41 K/T 59 None 0.8518 None gnomAD-4.0.0 1.20032E-06
14628 43 S/F 73 None 0.3725 None gnomAD-4.0.0 1.59238E-06
14629 44 K/R 111 None 1.0672 None gnomAD-4.0.0 1.20032E-06
14631 46 A/T 121 None 0.2012 None gnomAD-4.0.0 1.20032E-06
14631 46 A/V 121 rs1237863283 0.2012 None gnomAD-3.1.2 6.58E-06
14631 46 A/V 121 rs1237863283 0.2012 None gnomAD-4.0.0 1.23982E-06
14632 47 V/A 122 rs750807748 0.3272 None gnomAD-2.1.1 4.03E-06
14632 47 V/A 122 rs750807748 0.3272 None gnomAD-4.0.0 1.36877E-06
14632 47 V/I 122 rs1456607091 0.3272 None gnomAD-3.1.2 6.58E-06
14632 47 V/I 122 rs1456607091 0.3272 None gnomAD-4.0.0 6.57531E-06
14633 48 I/F 123 None 0.3064 None gnomAD-4.0.0 6.84391E-07
14633 48 I/V 123 rs2059751227 0.3064 None gnomAD-4.0.0 1.36878E-06
14634 49 K/N 125 rs763794623 0.5780 None gnomAD-2.1.1 8.05E-06
14634 49 K/N 125 rs763794623 0.5780 None gnomAD-4.0.0 2.05321E-06
14634 49 K/Q 125 None 0.5780 None gnomAD-4.0.0 1.59224E-06
14634 49 K/R 125 None 0.5780 None gnomAD-4.0.0 1.20032E-06
14636 51 D/E 130 rs1469705451 0.7273 None gnomAD-2.1.1 1.61E-05
14636 51 D/E 130 rs1469705451 0.7273 None gnomAD-4.0.0 6.36916E-06
14636 51 D/H 130 None 0.7273 None gnomAD-4.0.0 2.40064E-06
14637 52 G/S 131 None 0.3749 None gnomAD-4.0.0 1.59232E-06
14637 52 G/V 131 None 0.3749 None gnomAD-4.0.0 1.59231E-06
14638 53 K/R 134 rs878896650 0.3684 None gnomAD-4.0.0 4.10636E-06
14640 55 R/C 136 rs72650088 0.1176 None gnomAD-2.1.1 2.82E-05
14640 55 R/C 136 rs72650088 0.1176 None gnomAD-3.1.2 1.97E-05
14640 55 R/C 136 rs72650088 0.1176 DCM
Literature None
14640 55 R/C 136 rs72650088 0.1176 None gnomAD-4.0.0 2.16969E-05
14640 55 R/H 136 rs752141195 0.1176 None gnomAD-2.1.1 1.21E-05
14640 55 R/H 136 rs752141195 0.1176 None gnomAD-3.1.2 6.58E-06
14640 55 R/H 136 rs752141195 0.1176 None gnomAD-4.0.0 8.67808E-06
14640 55 R/L 136 None 0.1176 None gnomAD-4.0.0 6.84414E-07
14640 55 R/P 136 rs752141195 0.1176 None gnomAD-2.1.1 7.15E-06
14640 55 R/P 136 rs752141195 0.1176 None gnomAD-3.1.2 6.58E-06
14640 55 R/P 136 rs752141195 0.1176 None gnomAD-4.0.0 5.57917E-06
14641 56 M/I 137 rs2059746985 0.1930 None gnomAD-3.1.2 6.58E-06
14641 56 M/I 137 rs2059746985 0.1930 None gnomAD-4.0.0 6.57557E-06
14641 56 M/K 137 rs1481001987 0.1930 None gnomAD-2.1.1 4.03E-06
14641 56 M/K 137 rs1481001987 0.1930 None gnomAD-4.0.0 1.59229E-06
14641 56 M/R 137 None 0.1930 None gnomAD-4.0.0 1.59229E-06
14641 56 M/V 137 None 0.1930 None gnomAD-4.0.0 2.05318E-06
14643 58 I/N 139 None 0.1784 None gnomAD-4.0.0 2.05317E-06
14645 60 K/N 141 None 0.5104 None gnomAD-4.0.0 1.20032E-06
14647 62 A/T 144 None 0.1823 None gnomAD-4.0.0 1.20032E-06
14647 62 A/V 144 rs1647945461 0.1823 None gnomAD-3.1.2 6.58E-06
14647 62 A/V 144 rs1647945461 0.1823 None gnomAD-4.0.0 6.57765E-06
14649 64 K/N 146 None 0.7120 None gnomAD-4.0.0 6.84385E-07
14650 65 S/L 148 None 0.4941 None gnomAD-4.0.0 1.59224E-06
14652 67 I/S 151 rs767038885 0.3617 None gnomAD-2.1.1 4.03E-06
14652 67 I/S 151 rs767038885 0.3617 None gnomAD-4.0.0 2.73755E-06
14652 67 I/T 151 rs767038885 0.3617 None gnomAD-2.1.1 8.05E-06
14652 67 I/T 151 rs767038885 0.3617 None gnomAD-3.1.2 1.32E-05
14652 67 I/T 151 rs767038885 0.3617 None gnomAD-4.0.0 4.33924E-06
14654 69 Q/E 153 None 0.4898 None gnomAD-4.0.0 6.84398E-07
14654 69 Q/K 153 rs1463883512 0.4898 None gnomAD-2.1.1 3.19E-05
14654 69 Q/K 153 rs1463883512 0.4898 None gnomAD-3.1.2 6.57E-06
14654 69 Q/K 153 rs1463883512 0.4898 None gnomAD-4.0.0 6.5741E-06
14656 71 T/I 155 rs1001069675 0.2059 None gnomAD-3.1.2 1.32E-05
14656 71 T/I 155 rs1001069675 0.2059 None gnomAD-4.0.0 4.33927E-06
14656 71 T/N 155 rs1001069675 0.2059 None gnomAD-3.1.2 6.58E-06
14656 71 T/N 155 rs1001069675 0.2059 None gnomAD-4.0.0 6.57635E-06
14657 72 C/G 156 rs772937665 0.0595 None gnomAD-2.1.1 8.06E-06
14657 72 C/G 156 rs772937665 0.0595 None gnomAD-4.0.0 1.57414E-05
14657 72 C/S 156 rs774245300 0.0595 None gnomAD-2.1.1 2.86E-05
14657 72 C/S 156 rs774245300 0.0595 None gnomAD-3.1.2 5.92E-05
14657 72 C/S 156 rs774245300 0.0595 None gnomAD-4.0.0 8.6783E-06
14657 72 C/Y 156 rs774245300 0.0595 None gnomAD-4.0.0 6.84402E-07
14658 73 D/G 157 rs574681280 0.2474 None gnomAD-2.1.1 2.01E-05
14658 73 D/G 157 rs574681280 0.2474 None gnomAD-4.0.0 4.79094E-06
14658 73 D/N 157 rs1397760858 0.2474 None gnomAD-3.1.2 6.57E-06
14658 73 D/N 157 rs1397760858 0.2474 None gnomAD-4.0.0 6.57479E-06
14658 73 D/V 157 None 0.2474 None gnomAD-4.0.0 2.73768E-06
14659 74 C/F 158 None 0.1859 None gnomAD-4.0.0 6.84423E-07
14659 74 C/G 158 rs1460790358 0.1859 None gnomAD-2.1.1 4.03E-06
14659 74 C/G 158 rs1460790358 0.1859 None gnomAD-4.0.0 6.00161E-06
14660 75 G/R 159 rs762795774 0.4957 None gnomAD-2.1.1 4.03E-06
14660 75 G/R 159 rs762795774 0.4957 None gnomAD-4.0.0 1.36885E-06
14661 76 T/I 161 rs370339661 0.6698 None gnomAD-2.1.1 4.03E-06
14661 76 T/I 161 rs370339661 0.6698 None gnomAD-3.1.2 6.58E-06
14661 76 T/I 161 rs370339661 0.6698 None gnomAD-4.0.0 6.57626E-06
14662 77 D/A 162 rs796538475 0.2312 None gnomAD-2.1.1 3.19E-05
14662 77 D/A 162 rs796538475 0.2312 None gnomAD-3.1.2 1.31E-05
14662 77 D/A 162 rs796538475 0.2312 None gnomAD-4.0.0 8.67852E-06
14662 77 D/E 162 rs201390600 0.2312 None gnomAD-2.1.1 8.23E-05
14662 77 D/E 162 rs201390600 0.2312 None gnomAD-3.1.2 2.63E-05
14662 77 D/E 162 rs201390600 0.2312 None 1000 genomes 1.99681E-04
14662 77 D/E 162 rs201390600 0.2312 None gnomAD-4.0.0 4.40109E-05
14662 77 D/H 162 rs876658059 0.2312 None gnomAD-4.0.0 1.59252E-06
14663 78 K/E 163 rs1271800091 0.4634 None gnomAD-3.1.2 6.57E-06
14663 78 K/E 163 rs1271800091 0.4634 None gnomAD-4.0.0 6.57358E-06
14663 78 K/N 163 rs781378924 0.4634 None gnomAD-2.1.1 1.21E-05
14663 78 K/N 163 rs781378924 0.4634 None gnomAD-4.0.0 1.59255E-05
14663 78 K/Q 163 rs1271800091 0.4634 None gnomAD-4.0.0 1.30044E-05
14664 79 T/S 169 rs768825478 0.0945 None gnomAD-2.1.1 4.65E-05
14664 79 T/S 169 rs768825478 0.0945 None gnomAD-3.1.2 6.58E-06
14664 79 T/S 169 rs768825478 0.0945 None gnomAD-4.0.0 1.79493E-05
14665 80 S/A 171 None 0.3187 None gnomAD-4.0.0 2.73805E-06
14666 81 G/R 172 rs756959571 0.1260 None gnomAD-2.1.1 4.03E-06
14666 81 G/R 172 rs756959571 0.1260 None gnomAD-4.0.0 4.77867E-06