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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26594 1 L/I 1 rs759737599 0.4555 None gnomAD-2.1.1 5.63E-05
26594 1 L/I 1 rs759737599 0.4555 None gnomAD-4.0.0 2.06916E-05
26595 2 D/G 2 None 0.4967 None gnomAD-4.0.0 1.59168E-06
26595 2 D/H 2 rs56307213 0.4967 None gnomAD-2.1.1 1.48054E-02
26595 2 D/H 2 rs56307213 0.4967 None gnomAD-3.1.2 1.44498E-02
26595 2 D/H 2 rs56307213 0.4967 None 1000 genomes 7.38818E-03
26595 2 D/H 2 rs56307213 0.4967 None gnomAD-4.0.0 1.75566E-02
26597 4 E/K 4 rs763312873 0.4461 None gnomAD-2.1.1 8.04E-06
26597 4 E/K 4 rs763312873 0.4461 None gnomAD-3.1.2 6.58E-06
26597 4 E/K 4 rs763312873 0.4461 None gnomAD-4.0.0 9.29733E-06
26600 7 K/N 9 None 0.5827 None gnomAD-4.0.0 1.20032E-06
26601 8 G/A 11 None 0.2470 None gnomAD-4.0.0 3.18326E-06
26601 8 G/R 11 rs773632027 0.2470 None gnomAD-2.1.1 1.61E-05
26601 8 G/R 11 rs773632027 0.2470 None gnomAD-4.0.0 6.36661E-06
26602 9 I/T 13 rs1165543503 0.2768 None gnomAD-2.1.1 7.14E-06
26602 9 I/T 13 rs1165543503 0.2768 None gnomAD-3.1.2 1.32E-05
26602 9 I/T 13 rs1165543503 0.2768 None gnomAD-4.0.0 3.84455E-06
26603 10 V/A 14 rs376882944 0.4749 None gnomAD-2.1.1 3.19E-05
26603 10 V/A 14 rs376882944 0.4749 None gnomAD-3.1.2 1.32E-05
26603 10 V/A 14 rs376882944 0.4749 None gnomAD-4.0.0 3.04521E-06
26603 10 V/F 14 rs914913478 0.4749 None gnomAD-2.1.1 7.14E-06
26603 10 V/F 14 rs914913478 0.4749 None gnomAD-3.1.2 1.32E-05
26603 10 V/F 14 rs914913478 0.4749 None gnomAD-4.0.0 2.47912E-06
26604 11 V/I 16 rs190407944 0.1968 None gnomAD-2.1.1 4.02E-06
26604 11 V/I 16 rs190407944 0.1968 None gnomAD-3.1.2 6.57E-06
26604 11 V/I 16 rs190407944 0.1968 None 1000 genomes 1.99681E-04
26604 11 V/I 16 rs190407944 0.1968 None gnomAD-4.0.0 1.23944E-06
26604 11 V/L 16 rs190407944 0.1968 None gnomAD-2.1.1 4.02E-06
26604 11 V/L 16 rs190407944 0.1968 None gnomAD-4.0.0 6.84273E-07
26605 12 R/K 18 None 0.4940 None gnomAD-4.0.0 6.84266E-07
26605 12 R/T 18 rs1263615793 0.4940 None gnomAD-2.1.1 4.02E-06
26605 12 R/T 18 rs1263615793 0.4940 None gnomAD-4.0.0 1.36853E-06
26606 13 A/D 23 rs779734456 0.3253 None gnomAD-2.1.1 4.02E-06
26606 13 A/G 23 rs779734456 0.3253 None gnomAD-4.0.0 1.20032E-06
26607 14 G/V 24 None 0.3857 None gnomAD-4.0.0 1.59149E-06
26609 16 S/C 26 rs771678075 0.3742 None gnomAD-2.1.1 4.02E-06
26609 16 S/C 26 rs771678075 0.3742 None gnomAD-4.0.0 1.59151E-06
26609 16 S/T 26 rs1328705248 0.3742 None gnomAD-2.1.1 3.19E-05
26609 16 S/T 26 rs1328705248 0.3742 None gnomAD-3.1.2 6.57E-06
26609 16 S/T 26 rs1328705248 0.3742 None gnomAD-4.0.0 6.57488E-06
26611 18 R/G 29 rs745409995 0.7324 None gnomAD-2.1.1 8.04E-06
26611 18 R/G 29 rs745409995 0.7324 None gnomAD-4.0.0 3.76337E-05
26612 19 I/V 30 None 0.1331 None gnomAD-4.0.0 1.20032E-06
26613 20 H/Y 31 rs1276864550 0.3695 None gnomAD-2.1.1 4.02E-06
26613 20 H/Y 31 rs1276864550 0.3695 None gnomAD-4.0.0 1.5915E-06
26614 21 I/M 33 None 0.1792 None gnomAD-4.0.0 1.59147E-06
26614 21 I/V 33 rs998950249 0.1792 None gnomAD-3.1.2 6.57E-06
26614 21 I/V 33 rs998950249 0.1792 None gnomAD-4.0.0 1.85923E-06
26615 22 P/A 34 None 0.5605 None gnomAD-4.0.0 6.8426E-07
26615 22 P/S 34 None 0.5605 None gnomAD-4.0.0 1.36852E-06
26616 23 F/L 35 rs1705818116 0.1511 None gnomAD-4.0.0 1.20034E-06
26617 24 K/R 38 None 1.0001 None gnomAD-4.0.0 3.60103E-06
26618 25 G/C 40 rs778343851 0.3306 None gnomAD-2.1.1 1.61E-05
26618 25 G/C 40 rs778343851 0.3306 None gnomAD-4.0.0 4.77435E-06
26618 25 G/D 40 None 0.3306 None gnomAD-4.0.0 1.59144E-06
26619 26 R/C 41 rs757229467 0.7984 None gnomAD-2.1.1 3.62E-05
26619 26 R/C 41 rs757229467 0.7984 None gnomAD-3.1.2 1.32E-05
26619 26 R/C 41 rs757229467 0.7984 None gnomAD-4.0.0 1.23958E-05
26619 26 R/H 41 rs530507211 0.7984 None gnomAD-2.1.1 3.25466E-04
26619 26 R/H 41 rs530507211 0.7984 None gnomAD-3.1.2 3.95E-05
26619 26 R/H 41 rs530507211 0.7984 None 1000 genomes 1.99681E-04
26619 26 R/H 41 rs530507211 0.7984 None gnomAD-4.0.0 6.631E-05
26620 27 P/L 42 rs1260392231 0.5181 None gnomAD-3.1.2 6.58E-06
26620 27 P/L 42 rs1260392231 0.5181 None gnomAD-4.0.0 3.04525E-06
26621 28 T/A 43 rs372537578 0.4548 None gnomAD-2.1.1 3.92E-05
26621 28 T/A 43 rs372537578 0.4548 None gnomAD-3.1.2 9.2E-05
26621 28 T/A 43 rs372537578 0.4548 None gnomAD-4.0.0 1.67329E-05
26621 28 T/K 43 rs3731746 0.4548 None gnomAD-2.1.1 4.42E-05
26621 28 T/K 43 rs3731746 0.4548 None gnomAD-3.1.2 1.32E-05
26621 28 T/K 43 rs3731746 0.4548 None gnomAD-4.0.0 3.28478E-05
26621 28 T/M 43 rs3731746 0.4548 None gnomAD-2.1.1 2.33214E-01
26621 28 T/M 43 rs3731746 0.4548 None gnomAD-3.1.2 2.3958E-01
26621 28 T/M 43 rs3731746 0.4548 None 1000 genomes 3.42252E-01
26621 28 T/M 43 rs3731746 0.4548 None gnomAD-4.0.0 1.93829E-01
26622 29 P/L 44 rs532706350 0.1443 None gnomAD-2.1.1 2.41E-05
26622 29 P/L 44 rs532706350 0.1443 None gnomAD-3.1.2 2.63E-05
26622 29 P/L 44 rs532706350 0.1443 None 1000 genomes 1.99681E-04
26622 29 P/L 44 rs532706350 0.1443 None gnomAD-4.0.0 5.82522E-05
26623 30 E/D 45 rs751704572 0.8282 None gnomAD-3.1.2 6.57E-06
26623 30 E/D 45 rs751704572 0.8282 None gnomAD-4.0.0 6.5735E-06
26623 30 E/K 45 rs1705804390 0.8282 None gnomAD-4.0.0 2.737E-06
26624 31 I/N 46 rs373540030 0.1596 None gnomAD-2.1.1 4.02E-06
26624 31 I/N 46 rs373540030 0.1596 None gnomAD-4.0.0 4.78978E-06
26624 31 I/S 46 None 0.1596 None gnomAD-4.0.0 6.84254E-07
26624 31 I/T 46 rs373540030 0.1596 None gnomAD-2.1.1 1.21E-05
26624 31 I/T 46 rs373540030 0.1596 None gnomAD-3.1.2 6.58E-06
26624 31 I/T 46 rs373540030 0.1596 None gnomAD-4.0.0 4.95808E-06
26625 32 T/I 47 rs1705799804 0.5179 None gnomAD-4.0.0 3.18295E-06
26626 33 W/R 48 None 0.1930 None gnomAD-4.0.0 3.18289E-06
26627 34 S/C 49 None 0.3038 None gnomAD-4.0.0 6.8425E-07
26627 34 S/F 49 rs1478761282 0.3038 None gnomAD-2.1.1 7.14E-06
26627 34 S/F 49 rs1478761282 0.3038 None gnomAD-3.1.2 6.57E-06
26627 34 S/F 49 rs1478761282 0.3038 None gnomAD-4.0.0 2.47901E-06
26628 35 R/L 50 rs201091376 0.1988 None gnomAD-2.1.1 8.04E-06
26628 35 R/L 50 rs201091376 0.1988 None gnomAD-3.1.2 1.31E-05
26628 35 R/L 50 rs201091376 0.1988 None gnomAD-4.0.0 1.85925E-06
26628 35 R/P 50 rs201091376 0.1988 None gnomAD-2.1.1 5.71E-05
26628 35 R/P 50 rs201091376 0.1988 None gnomAD-3.1.2 1.51206E-04
26628 35 R/P 50 rs201091376 0.1988 None gnomAD-4.0.0 2.91282E-05
26628 35 R/Q 50 None 0.1988 None gnomAD-2.1.1 2.97392E-04
26628 35 R/Q 50 None 0.1988 None gnomAD-3.1.2 1.05187E-04
26628 35 R/Q 50 None 0.1988 None 1000 genomes 7.98722E-04
26628 35 R/Q 50 None 0.1988 None gnomAD-4.0.0 1.38194E-04
26629 36 E/Q 51 rs727504673 0.4964 None gnomAD-2.1.1 2.01E-05
26629 36 E/Q 51 rs727504673 0.4964 None gnomAD-3.1.2 6.57E-06
26629 36 E/Q 51 rs727504673 0.4964 None gnomAD-4.0.0 1.98316E-05
26629 36 E/V 51 rs1705791323 0.4964 None gnomAD-4.0.0 1.59145E-06
26630 37 E/D 52 None 0.8885 None gnomAD-4.0.0 1.36852E-06
26631 38 G/R 55 None 0.5370 None gnomAD-4.0.0 1.59145E-06
26631 38 G/S 55 rs1705788431 0.5370 None gnomAD-3.1.2 6.57E-06
26631 38 G/S 55 rs1705788431 0.5370 None gnomAD-4.0.0 2.56255E-06
26632 39 E/K 56 None 0.9864 None gnomAD-4.0.0 1.20035E-06
26634 41 T/I 69 None 0.4829 None gnomAD-4.0.0 1.59148E-06
26635 42 D/G 70 rs1301645407 1.1360 None gnomAD-3.1.2 6.57E-06
26635 42 D/G 70 rs1301645407 1.1360 None gnomAD-4.0.0 2.56239E-06
26636 43 K/E 73 None 0.3024 None gnomAD-4.0.0 1.59146E-06
26637 44 V/I 102 rs375605062 0.1700 None gnomAD-2.1.1 2.41E-05
26637 44 V/I 102 rs375605062 0.1700 None gnomAD-3.1.2 1.31E-05
26637 44 V/I 102 rs375605062 0.1700 None gnomAD-4.0.0 1.48741E-05
26638 45 Q/P 122 rs540623797 0.7224 None gnomAD-2.1.1 8.04E-06
26638 45 Q/P 122 rs540623797 0.7224 None gnomAD-3.1.2 6.57E-06
26638 45 Q/P 122 rs540623797 0.7224 None 1000 genomes 1.99681E-04
26638 45 Q/P 122 rs540623797 0.7224 None gnomAD-4.0.0 2.05275E-06
26639 46 I/T 123 rs771730962 0.2820 None gnomAD-2.1.1 4.02E-06
26639 46 I/T 123 rs771730962 0.2820 None gnomAD-4.0.0 4.10547E-06
26641 48 K/N 127 rs745463486 0.4904 None gnomAD-2.1.1 4.02E-06
26641 48 K/N 127 rs745463486 0.4904 None gnomAD-4.0.0 1.3685E-06
26642 49 G/E 130 rs778486315 0.1795 None gnomAD-2.1.1 4.02E-06
26642 49 G/E 130 rs778486315 0.1795 None gnomAD-4.0.0 1.36851E-06
26642 49 G/R 130 None 0.1795 None gnomAD-4.0.0 1.59148E-06
26642 49 G/V 130 None 0.1795 None gnomAD-4.0.0 6.84253E-07
26643 50 V/I 131 rs770413213 0.8286 None gnomAD-4.0.0 1.59148E-06
26644 51 N/T 134 None 0.5274 None gnomAD-4.0.0 1.59151E-06
26646 53 T/I 136 rs1231567594 0.0928 None gnomAD-2.1.1 3.19E-05
26646 53 T/I 136 rs1231567594 0.0928 None gnomAD-3.1.2 6.57E-06
26646 53 T/I 136 rs1231567594 0.0928 None gnomAD-4.0.0 2.56264E-06
26646 53 T/N 136 rs1231567594 0.0928 None gnomAD-2.1.1 4.02E-06
26646 53 T/N 136 rs1231567594 0.0928 None gnomAD-4.0.0 1.59147E-06
26646 53 T/S 136 None 0.0928 None gnomAD-4.0.0 1.20032E-06
26648 55 L/I 138 None 0.0829 None gnomAD-4.0.0 1.5915E-06
26648 55 L/Q 138 rs1302262085 0.0829 None gnomAD-2.1.1 8.04E-06
26648 55 L/Q 138 rs1302262085 0.0829 None gnomAD-4.0.0 6.84251E-07
26648 55 L/R 138 None 0.0829 None gnomAD-4.0.0 1.3685E-06
26650 57 I/V 140 None 0.1303 None gnomAD-4.0.0 3.42128E-06
26653 60 C/Y 144 rs752562709 0.1016 None gnomAD-2.1.1 2.01E-05
26653 60 C/Y 144 rs752562709 0.1016 None gnomAD-4.0.0 7.95753E-06
26655 62 R/I 146 None 0.2115 None gnomAD-4.0.0 6.84258E-07
26655 62 R/K 146 rs1186804740 0.2115 None gnomAD-2.1.1 3.19E-05
26655 62 R/K 146 rs1186804740 0.2115 None gnomAD-3.1.2 6.57E-06
26655 62 R/K 146 rs1186804740 0.2115 None gnomAD-4.0.0 1.23948E-06
26656 63 N/H 148 rs1333413620 0.4955 None gnomAD-2.1.1 4.02E-06
26656 63 N/H 148 rs1333413620 0.4955 None gnomAD-3.1.2 6.57E-06
26656 63 N/H 148 rs1333413620 0.4955 None gnomAD-4.0.0 3.0987E-06
26656 63 N/Y 148 rs1333413620 0.4955 None gnomAD-2.1.1 4.02E-06
26656 63 N/Y 148 rs1333413620 0.4955 None gnomAD-4.0.0 1.36852E-06
26657 64 D/G 149 rs1397158186 0.1890 None gnomAD-2.1.1 4.02E-06
26657 64 D/G 149 rs1397158186 0.1890 None gnomAD-4.0.0 1.36852E-06
26657 64 D/Y 149 rs781076407 0.1890 None gnomAD-2.1.1 4.02E-06
26657 64 D/Y 149 rs781076407 0.1890 None gnomAD-3.1.2 3.29E-05
26657 64 D/Y 149 rs781076407 0.1890 None gnomAD-4.0.0 1.54938E-05
26659 66 G/A 152 rs574711878 0.2824 None gnomAD-2.1.1 8.05E-06
26659 66 G/A 152 rs574711878 0.2824 None gnomAD-4.0.0 1.3001E-05
26659 66 G/V 152 rs574711878 0.2824 None gnomAD-3.1.2 6.57E-06
26659 66 G/V 152 rs574711878 0.2824 None 1000 genomes 1.99681E-04
26659 66 G/V 152 rs574711878 0.2824 None gnomAD-4.0.0 1.23943E-06
26662 69 I/T 155 None 0.2541 None gnomAD-4.0.0 1.20032E-06
26663 70 L/F 156 None 0.1075 None gnomAD-4.0.0 5.47419E-06
26666 73 E/G 159 rs766614271 0.4477 None gnomAD-2.1.1 1.21E-05
26666 73 E/G 159 rs766614271 0.4477 None gnomAD-4.0.0 3.42129E-06
26667 74 N/K 161 None 0.1841 None gnomAD-4.0.0 1.20034E-06
26669 76 S/N 163 rs727505214 0.6711 None gnomAD-2.1.1 4.02E-06
26669 76 S/N 163 rs727505214 0.6711 None gnomAD-4.0.0 8.2111E-06
26670 77 G/E 164 None 0.3693 None gnomAD-4.0.0 2.40065E-06
26671 78 S/P 165 rs371983237 0.4461 None gnomAD-2.1.1 4.02E-06
26672 79 K/E 166 None 0.7465 None gnomAD-4.0.0 1.20032E-06
26672 79 K/M 166 rs765691452 0.7465 None gnomAD-2.1.1 4.02E-06
26672 79 K/M 166 rs765691452 0.7465 None gnomAD-4.0.0 1.36853E-06
26672 79 K/N 166 rs762254728 0.7465 None gnomAD-2.1.1 4.02E-06
26672 79 K/N 166 rs762254728 0.7465 None gnomAD-4.0.0 4.78987E-06
26676 83 V/I 172 None 0.1525 None gnomAD-4.0.0 1.20032E-06
26677 84 T/S 173 rs2154165331 0.3587 None gnomAD-4.0.0 1.20032E-06
26678 85 V/L 174 rs1239747236 0.1497 None gnomAD-2.1.1 4.02E-06
26678 85 V/L 174 rs1239747236 0.1497 None gnomAD-3.1.2 6.57E-06
26678 85 V/L 174 rs1239747236 0.1497 None gnomAD-4.0.0 1.85927E-06
26679 86 K/Q 175 None 0.3950 None gnomAD-4.0.0 3.60097E-06
26679 86 K/T 175 rs776990508 0.3950 None gnomAD-2.1.1 4.02E-06
26679 86 K/T 175 rs776990508 0.3950 None gnomAD-4.0.0 3.42129E-06
26680 87 V/F 177 rs1396033871 0.1139 None gnomAD-3.1.2 6.57E-06
26680 87 V/F 177 rs1396033871 0.1139 None gnomAD-4.0.0 6.57428E-06
26680 87 V/G 177 None 0.1139 None gnomAD-4.0.0 1.59154E-06