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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23637 1 G/D 1 rs772116474 1.0464 None gnomAD-4.0.0 3.60097E-06
23637 1 G/S 1 rs1243986262 1.0464 None gnomAD-2.1.1 4.05E-06
23637 1 G/S 1 rs1243986262 1.0464 None gnomAD-4.0.0 1.36925E-06
23638 2 I/T 2 rs1709621384 0.3654 None gnomAD-4.0.0 1.59336E-06
23639 3 Y/H 3 None 0.7606 None gnomAD-4.0.0 6.846E-07
23640 4 Q/K 4 rs547376963 0.5189 None gnomAD-2.1.1 4.05E-06
23640 4 Q/K 4 rs547376963 0.5189 None gnomAD-3.1.2 6.58E-06
23640 4 Q/K 4 rs547376963 0.5189 None 1000 genomes 1.99681E-04
23640 4 Q/K 4 rs547376963 0.5189 None gnomAD-4.0.0 2.56507E-06
23641 5 K/Q 5 rs778715011 0.4548 None gnomAD-2.1.1 1.22E-05
23641 5 K/Q 5 rs778715011 0.4548 None gnomAD-3.1.2 6.57E-06
23641 5 K/Q 5 rs778715011 0.4548 None gnomAD-4.0.0 8.06037E-06
23643 7 V/A 13 None 0.2427 None gnomAD-4.0.0 1.20032E-06
23643 7 V/I 13 rs1249962970 0.2427 None gnomAD-2.1.1 4.05E-06
23643 7 V/I 13 rs1249962970 0.2427 None gnomAD-4.0.0 6.37473E-06
23644 8 I/S 14 None 0.4908 None gnomAD-4.0.0 1.59348E-06
23645 9 A/V 16 rs757143081 0.1675 None gnomAD-2.1.1 4.05E-06
23645 9 A/V 16 rs757143081 0.1675 None gnomAD-4.0.0 1.5938E-06
23647 11 A/T 23 rs1447481220 0.2307 None gnomAD-2.1.1 4.05E-06
23647 11 A/T 23 rs1447481220 0.2307 None gnomAD-4.0.0 2.05403E-06
23648 12 G/S 24 rs1709611603 0.3116 None gnomAD-4.0.0 1.59384E-06
23648 12 G/V 24 rs1226411676 0.3116 None gnomAD-2.1.1 4.06E-06
23648 12 G/V 24 rs1226411676 0.3116 None gnomAD-4.0.0 4.10804E-06
23650 14 N/K 26 rs377185608 0.5840 None gnomAD-2.1.1 2.52E-05
23650 14 N/K 26 rs377185608 0.5840 None gnomAD-3.1.2 5.26E-05
23650 14 N/K 26 rs377185608 0.5840 None gnomAD-4.0.0 1.36425E-05
23651 15 I/N 28 None 0.1780 None gnomAD-4.0.0 6.84658E-07
23651 15 I/S 28 rs149075285 0.1780 None gnomAD-2.1.1 7.9867E-04
23651 15 I/S 28 rs149075285 0.1780 None gnomAD-3.1.2 2.42092E-03
23651 15 I/S 28 rs149075285 0.1780 None 1000 genomes 2.39617E-03
23651 15 I/S 28 rs149075285 0.1780 None gnomAD-4.0.0 4.54514E-04
23653 17 V/A 30 None 0.1957 None gnomAD-4.0.0 1.59373E-06
23655 19 I/T 33 rs794729488 0.2268 None gnomAD-3.1.2 1.32E-05
23655 19 I/T 33 rs794729488 0.2268 None gnomAD-4.0.0 1.30221E-05
23656 20 P/L 34 rs368938701 0.5556 None gnomAD-2.1.1 3.19E-05
23656 20 P/L 34 rs368938701 0.5556 None gnomAD-3.1.2 6.58E-06
23656 20 P/L 34 rs368938701 0.5556 None gnomAD-4.0.0 2.48057E-06
23657 21 V/A 35 rs754468593 0.2534 None gnomAD-2.1.1 4.06E-06
23657 21 V/A 35 rs754468593 0.2534 None gnomAD-4.0.0 3.42342E-06
23657 21 V/G 35 rs754468593 0.2534 None gnomAD-2.1.1 4.06E-06
23657 21 V/G 35 rs754468593 0.2534 None gnomAD-4.0.0 6.84684E-07
23657 21 V/L 35 None 0.2534 None gnomAD-4.0.0 6.84679E-07
23657 21 V/M 35 rs752876499 0.2534 None gnomAD-2.1.1 8.11E-06
23657 21 V/M 35 rs752876499 0.2534 None gnomAD-3.1.2 6.58E-06
23657 21 V/M 35 rs752876499 0.2534 None gnomAD-4.0.0 1.86035E-06
23658 22 L/F 38 None 1.0721 None gnomAD-4.0.0 1.59389E-06
23659 23 G/D 40 None 0.3198 None gnomAD-4.0.0 1.20032E-06
23659 23 G/S 40 rs376256345 0.3198 None gnomAD-2.1.1 4.68E-05
23659 23 G/S 40 rs376256345 0.3198 None gnomAD-3.1.2 5.92E-05
23659 23 G/S 40 rs376256345 0.3198 None gnomAD-4.0.0 3.41096E-05
23660 24 R/L 41 rs570979108 0.7298 None gnomAD-2.1.1 4.06E-06
23660 24 R/L 41 rs570979108 0.7298 None gnomAD-4.0.0 6.84727E-07
23660 24 R/Q 41 rs570979108 0.7298 None gnomAD-2.1.1 2.84E-05
23660 24 R/Q 41 rs570979108 0.7298 None gnomAD-4.0.0 2.67042E-05
23661 25 P/L 42 rs1060500459 0.5265 None gnomAD-2.1.1 4.06E-06
23661 25 P/L 42 rs1060500459 0.5265 None gnomAD-3.1.2 1.32E-05
23661 25 P/L 42 rs1060500459 0.5265 None gnomAD-4.0.0 1.24041E-05
23661 25 P/S 42 rs763795097 0.5265 None gnomAD-2.1.1 4.06E-06
23661 25 P/S 42 rs763795097 0.5265 None gnomAD-4.0.0 3.18747E-06
23663 27 P/A 44 rs1709593893 0.2076 None gnomAD-3.1.2 6.58E-06
23663 27 P/A 44 rs1709593893 0.2076 None gnomAD-4.0.0 3.72069E-06
23663 27 P/L 44 None 0.2076 None gnomAD-4.0.0 1.20032E-06
23664 28 T/I 45 rs774999533 0.7179 None gnomAD-2.1.1 4.05E-06
23664 28 T/I 45 rs774999533 0.7179 None gnomAD-4.0.0 2.73866E-06
23666 30 T/I 47 rs548118690 0.5117 None gnomAD-2.1.1 4.06E-06
23666 30 T/I 47 rs548118690 0.5117 None gnomAD-3.1.2 6.58E-06
23666 30 T/I 47 rs548118690 0.5117 None 1000 genomes 1.99681E-04
23666 30 T/I 47 rs548118690 0.5117 None gnomAD-4.0.0 2.56714E-06
23666 30 T/S 47 None 0.5117 None gnomAD-4.0.0 1.59348E-06
23668 32 K/R 49 rs1453168470 0.3701 None gnomAD-4.0.0 8.21486E-06
23668 32 K/T 49 rs1453168470 0.3701 None gnomAD-2.1.1 4.05E-06
23668 32 K/T 49 rs1453168470 0.3701 None gnomAD-4.0.0 6.84571E-07
23670 34 G/A 51 None 0.2408 None gnomAD-4.0.0 6.84568E-07
23670 34 G/R 51 rs1709584700 0.2408 None gnomAD-4.0.0 1.59328E-06
23670 34 G/V 51 None 0.2408 None gnomAD-4.0.0 6.84568E-07
23671 35 D/A 52 None 1.0649 None gnomAD-4.0.0 1.59315E-06
23671 35 D/E 52 None 1.0649 None gnomAD-4.0.0 6.84562E-07
23671 35 D/H 52 None 1.0649 None gnomAD-4.0.0 6.84586E-07
23671 35 D/N 52 rs774191400 1.0649 None gnomAD-2.1.1 4.04E-06
23671 35 D/N 52 rs774191400 1.0649 None gnomAD-3.1.2 6.58E-06
23671 35 D/N 52 rs774191400 1.0649 None gnomAD-4.0.0 1.86016E-06
23675 39 K/N 59 None 0.9200 None gnomAD-4.0.0 1.59279E-06
23678 42 Q/E 109 rs778124569 1.0376 None gnomAD-2.1.1 5.01E-05
23678 42 Q/E 109 rs778124569 1.0376 None gnomAD-3.1.2 1.97E-05
23678 42 Q/E 109 rs778124569 1.0376 None gnomAD-4.0.0 3.9674E-05
23678 42 Q/P 109 None 1.0376 None gnomAD-4.0.0 1.5925E-06
23679 43 R/K 115 rs200144345 0.2564 None gnomAD-2.1.1 5.22477E-04
23679 43 R/K 115 rs200144345 0.2564 None gnomAD-3.1.2 4.07686E-04
23679 43 R/K 115 rs200144345 0.2564 None gnomAD-4.0.0 5.92587E-04
23682 46 F/C 123 rs562662770 0.2335 None gnomAD-2.1.1 4.03E-06
23682 46 F/C 123 rs562662770 0.2335 None gnomAD-3.1.2 6.58E-06
23682 46 F/C 123 rs562662770 0.2335 None 1000 genomes 1.99681E-04
23682 46 F/C 123 rs562662770 0.2335 None gnomAD-4.0.0 1.85956E-06
23682 46 F/L 123 rs183466952 0.2335 None gnomAD-2.1.1 8.06E-06
23682 46 F/L 123 rs183466952 0.2335 None gnomAD-4.0.0 3.18465E-06
23682 46 F/S 123 rs562662770 0.2335 None gnomAD-2.1.1 4.03E-06
23682 46 F/S 123 rs562662770 0.2335 None gnomAD-4.0.0 1.36879E-06
23684 48 T/I 127 None 0.4089 None gnomAD-4.0.0 2.40065E-06
23686 50 A/V 131 rs55903402 0.6012 None gnomAD-2.1.1 2.5E-05
23686 50 A/V 131 rs55903402 0.6012 None gnomAD-3.1.2 5.26E-05
23686 50 A/V 131 rs55903402 0.6012 None gnomAD-4.0.0 2.2316E-05
23688 52 S/A 135 rs935595558 0.1130 None gnomAD-3.1.2 6.58E-06
23688 52 S/A 135 rs935595558 0.1130 None gnomAD-4.0.0 2.56368E-06
23689 53 T/A 136 rs755034022 0.1201 None gnomAD-2.1.1 4.03E-06
23689 53 T/A 136 rs755034022 0.1201 None gnomAD-4.0.0 3.42185E-06
23690 54 I/T 137 rs752065044 0.1229 None gnomAD-2.1.1 4.02E-06
23690 54 I/T 137 rs752065044 0.1229 None gnomAD-4.0.0 1.59209E-06
23691 55 L/S 138 rs1358981791 0.1035 None gnomAD-3.1.2 6.58E-06
23691 55 L/S 138 rs1358981791 0.1035 None gnomAD-4.0.0 3.71911E-06
23692 56 N/H 139 rs780578913 0.2185 None gnomAD-2.1.1 4.02E-06
23692 56 N/H 139 rs780578913 0.2185 None gnomAD-4.0.0 3.4218E-06
23692 56 N/S 139 rs1575796679 0.2185 None gnomAD-4.0.0 1.59208E-06
23693 57 I/M 140 None 0.0959 None gnomAD-4.0.0 2.05308E-06
23694 58 N/H 141 rs1432742107 0.3918 None gnomAD-2.1.1 4.02E-06
23694 58 N/H 141 rs1432742107 0.3918 None gnomAD-4.0.0 1.59204E-06
23694 58 N/S 141 rs758750534 0.3918 None gnomAD-2.1.1 4.02E-06
23694 58 N/S 141 rs758750534 0.3918 None gnomAD-4.0.0 2.05306E-06
23695 59 E/D 143 rs1709558707 0.7303 None gnomAD-3.1.2 6.57E-06
23695 59 E/D 143 rs1709558707 0.7303 None gnomAD-4.0.0 6.57419E-06
23696 60 C/R 144 rs1709557922 0.0794 None gnomAD-4.0.0 1.59204E-06
23696 60 C/Y 144 None 0.0794 None gnomAD-4.0.0 1.20032E-06
23697 61 V/I 145 None 0.3522 None gnomAD-4.0.0 1.59207E-06
23699 63 S/N 148 None 0.5529 None gnomAD-4.0.0 1.3687E-06
23700 64 D/H 149 rs1559444507 0.1607 None gnomAD-2.1.1 4.02E-06
23700 64 D/H 149 rs1559444507 0.1607 None gnomAD-4.0.0 2.05308E-06
23702 66 G/E 152 None 0.2761 None gnomAD-4.0.0 1.5921E-06
23702 66 G/R 152 None 0.2761 None gnomAD-4.0.0 6.84362E-07
23702 66 G/V 152 rs1709554662 0.2761 None gnomAD-3.1.2 6.58E-06
23702 66 G/V 152 rs1709554662 0.2761 None gnomAD-4.0.0 6.58163E-06
23702 66 G/W 152 rs750853901 0.2761 None gnomAD-2.1.1 4.29E-05
23702 66 G/W 152 rs750853901 0.2761 None gnomAD-3.1.2 7.89E-05
23702 66 G/W 152 rs750853901 0.2761 None gnomAD-4.0.0 1.12198E-04
23703 67 P/H 153 None 0.5013 None gnomAD-4.0.0 6.00165E-06
23705 69 P/L 155 rs765591920 0.1970 None gnomAD-2.1.1 8.05E-06
23705 69 P/L 155 rs765591920 0.1970 None gnomAD-4.0.0 4.77625E-06
23705 69 P/T 155 None 0.1970 None gnomAD-4.0.0 1.36872E-06
23706 70 L/I 156 rs760319001 0.1756 None gnomAD-2.1.1 2.41E-05
23706 70 L/I 156 rs760319001 0.1756 None gnomAD-4.0.0 8.89672E-06
23706 70 L/S 156 rs1481919740 0.1756 None gnomAD-2.1.1 4.02E-06
23706 70 L/S 156 rs1481919740 0.1756 None gnomAD-4.0.0 1.59209E-06
23707 71 T/I 157 None 0.3276 None gnomAD-4.0.0 1.20033E-06
23707 71 T/R 157 rs1180389290 0.3276 None gnomAD-2.1.1 3.19E-05
23707 71 T/R 157 rs1180389290 0.3276 None gnomAD-3.1.2 6.57E-06
23707 71 T/R 157 rs1180389290 0.3276 None gnomAD-4.0.0 6.57497E-06
23709 73 R/S 159 rs1252709285 0.5209 None gnomAD-2.1.1 4.03E-06
23709 73 R/S 159 rs1252709285 0.5209 None gnomAD-4.0.0 6.84377E-07
23711 75 I/M 162 rs1311167365 0.8203 None gnomAD-2.1.1 4.03E-06
23711 75 I/M 162 rs1311167365 0.8203 None gnomAD-4.0.0 3.42189E-06
23711 75 I/T 162 rs752317656 0.8203 None gnomAD-2.1.1 5.64E-05
23711 75 I/T 162 rs752317656 0.8203 None gnomAD-3.1.2 6.58E-06
23711 75 I/T 162 rs752317656 0.8203 None gnomAD-4.0.0 2.10764E-05
23712 76 V/A 163 rs1275870840 0.8160 None gnomAD-2.1.1 4.03E-06
23712 76 V/A 163 rs1275870840 0.8160 None gnomAD-4.0.0 3.18443E-06
23712 76 V/I 163 rs879054551 0.8160 None gnomAD-3.1.2 1.97E-05
23712 76 V/I 163 rs879054551 0.8160 None gnomAD-4.0.0 8.05831E-06
23713 77 G/E 164 None 0.3567 None gnomAD-4.0.0 1.59226E-06
23714 78 E/K 165 rs767016969 0.4927 None gnomAD-2.1.1 4.03E-06
23714 78 E/K 165 rs767016969 0.4927 None gnomAD-4.0.0 6.84398E-06
23715 79 V/A 166 rs759011433 0.7077 None gnomAD-2.1.1 1.79E-05
23715 79 V/A 166 rs759011433 0.7077 None gnomAD-3.1.2 1.97E-05
23715 79 V/A 166 rs759011433 0.7077 None gnomAD-4.0.0 1.17783E-05
23715 79 V/D 166 rs759011433 0.7077 None gnomAD-2.1.1 4.03E-06
23715 79 V/D 166 rs759011433 0.7077 None gnomAD-4.0.0 2.05327E-06
23716 80 G/D 168 rs774327480 0.4595 None gnomAD-2.1.1 8.06E-06
23716 80 G/D 168 rs774327480 0.4595 None gnomAD-3.1.2 6.58E-06
23716 80 G/D 168 rs774327480 0.4595 None gnomAD-4.0.0 5.57903E-06
23717 81 D/V 169 None 0.5212 None gnomAD-4.0.0 1.59237E-06
23717 81 D/Y 169 rs371818894 0.5212 None gnomAD-2.1.1 4.3E-05
23717 81 D/Y 169 rs371818894 0.5212 None gnomAD-3.1.2 5.92E-05
23717 81 D/Y 169 rs371818894 0.5212 None gnomAD-4.0.0 1.28308E-04
23718 82 V/D 171 None 0.3442 None gnomAD-4.0.0 6.84508E-07
23718 82 V/I 171 rs794729489 0.3442 None gnomAD-3.1.2 6.58E-06
23718 82 V/I 171 rs794729489 0.3442 None gnomAD-4.0.0 1.23981E-06
23718 82 V/L 171 None 0.3442 None gnomAD-4.0.0 6.84421E-07
23719 83 I/V 172 rs201818722 0.1596 None gnomAD-2.1.1 4.3E-05
23719 83 I/V 172 rs201818722 0.1596 None gnomAD-3.1.2 9.86E-05
23719 83 I/V 172 rs201818722 0.1596 None gnomAD-4.0.0 1.30179E-05
23720 84 T/I 173 None 0.3236 None gnomAD-4.0.0 1.20032E-06
23720 84 T/S 173 rs1709538154 0.3236 None gnomAD-4.0.0 1.59251E-06
23721 85 I/F 174 None 0.1115 None gnomAD-4.0.0 1.59248E-06
23721 85 I/V 174 rs773072591 0.1115 None gnomAD-2.1.1 1.61E-05
23721 85 I/V 174 rs773072591 0.1115 None gnomAD-3.1.2 6.57E-06
23721 85 I/V 174 rs773072591 0.1115 None gnomAD-4.0.0 8.97243E-06