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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28154 1 P/L 1 rs200350579 0.5423 None gnomAD-2.1.1 7.32256E-04
28154 1 P/L 1 rs200350579 0.5423 None gnomAD-3.1.2 2.17511E-03
28154 1 P/L 1 rs200350579 0.5423 None 1000 genomes 1.19808E-03
28154 1 P/L 1 rs200350579 0.5423 None gnomAD-4.0.0 3.76554E-04
28154 1 P/T 1 rs1703706765 0.5423 None gnomAD-3.1.2 6.57E-06
28154 1 P/T 1 rs1703706765 0.5423 None gnomAD-4.0.0 1.86715E-06
28155 2 P/S 2 None 0.1639 None gnomAD-4.0.0 1.20032E-06
28156 3 G/R 3 rs763560084 0.2700 None gnomAD-2.1.1 5.46E-05
28156 3 G/R 3 rs763560084 0.2700 None gnomAD-3.1.2 8.54E-05
28156 3 G/R 3 rs763560084 0.2700 None gnomAD-4.0.0 5.35185E-05
28157 4 P/L 4 None 0.4340 None gnomAD-4.0.0 1.60947E-06
28160 7 T/I 7 None 0.3545 None gnomAD-4.0.0 1.60568E-06
28160 7 T/P 7 rs985003893 0.3545 None gnomAD-3.1.2 6.57E-06
28160 7 T/P 7 rs985003893 0.3545 None gnomAD-4.0.0 1.18164E-05
28162 9 K/E 11 rs775599688 0.7412 None gnomAD-4.0.0 1.60188E-06
28162 9 K/T 11 None 0.7412 None gnomAD-4.0.0 1.08029E-05
28163 10 V/A 12 None 0.2507 None gnomAD-4.0.0 3.20099E-06
28164 11 V/G 13 rs1703698768 0.5287 None gnomAD-4.0.0 2.40064E-06
28164 11 V/L 13 None 0.5287 None gnomAD-4.0.0 1.60036E-06
28164 11 V/M 13 None 0.5287 None gnomAD-4.0.0 1.60036E-06
28165 12 H/D 14 rs1472903597 0.6813 None gnomAD-2.1.1 3.18E-05
28165 12 H/D 14 rs1472903597 0.6813 None gnomAD-3.1.2 6.57E-06
28165 12 H/D 14 rs1472903597 0.6813 None gnomAD-4.0.0 1.24146E-06
28165 12 H/R 14 rs876658088 0.6813 None gnomAD-3.1.2 1.31E-05
28165 12 H/R 14 rs876658088 0.6813 None gnomAD-4.0.0 1.42753E-05
28166 13 A/T 15 rs1703694418 0.2761 None gnomAD-4.0.0 1.59815E-06
28166 13 A/V 15 rs1553564661 0.2761 None gnomAD-3.1.2 6.57E-06
28166 13 A/V 15 rs1553564661 0.2761 None gnomAD-4.0.0 3.85453E-06
28167 14 T/I 16 rs1159274489 0.2884 None gnomAD-3.1.2 6.57E-06
28167 14 T/I 16 rs1159274489 0.2884 None gnomAD-4.0.0 6.57281E-06
28168 15 K/I 17 None 0.5095 None gnomAD-4.0.0 1.59556E-06
28169 16 S/A 18 None 0.3404 None gnomAD-4.0.0 3.19103E-06
28170 17 T/A 19 rs1703689855 0.2921 None gnomAD-4.0.0 1.59467E-06
28171 18 M/I 20 None 0.0996 None gnomAD-4.0.0 3.60097E-06
28171 18 M/T 20 rs1253820219 0.0996 None gnomAD-2.1.1 3.19E-05
28171 18 M/T 20 rs1253820219 0.0996 None gnomAD-3.1.2 6.57E-06
28171 18 M/T 20 rs1253820219 0.0996 None gnomAD-4.0.0 2.56597E-06
28173 20 V/A 22 rs1559299770 0.0910 None gnomAD-2.1.1 4.04E-06
28173 20 V/I 22 rs1703687594 0.0910 None gnomAD-4.0.0 1.36935E-06
28175 22 W/C 24 rs886042366 0.1274 None gnomAD-2.1.1 3.19E-05
28175 22 W/C 24 rs886042366 0.1274 None gnomAD-3.1.2 6.57E-06
28175 22 W/C 24 rs886042366 0.1274 None gnomAD-4.0.0 2.56478E-06
28176 23 Q/P 25 None 0.6185 None gnomAD-4.0.0 1.59298E-06
28177 24 V/A 26 rs532274400 0.5385 None gnomAD-2.1.1 7.17E-06
28177 24 V/A 26 rs532274400 0.5385 None gnomAD-3.1.2 6.57E-06
28177 24 V/A 26 rs532274400 0.5385 None gnomAD-4.0.0 2.56442E-06
28177 24 V/E 26 rs532274400 0.5385 None gnomAD-3.1.2 6.57E-06
28177 24 V/E 26 rs532274400 0.5385 None 1000 genomes 1.99681E-04
28177 24 V/E 26 rs532274400 0.5385 None gnomAD-4.0.0 6.56728E-06
28177 24 V/L 26 None 0.5385 None gnomAD-4.0.0 6.84535E-07
28177 24 V/M 26 None 0.5385 None gnomAD-4.0.0 6.84535E-07
28178 25 P/T 27 None 0.1739 None gnomAD-4.0.0 1.36906E-06
28179 26 V/I 28 None 1.1204 None gnomAD-4.0.0 1.36898E-06
28183 30 G/E 32 rs1486983313 0.6451 None gnomAD-2.1.1 4.03E-06
28183 30 G/E 32 rs1486983313 0.6451 None gnomAD-4.0.0 2.05342E-06
28183 30 G/V 32 None 0.6451 None gnomAD-4.0.0 6.84472E-07
28185 32 R/Q 34 rs371516793 0.8252 None gnomAD-2.1.1 2.42E-05
28185 32 R/Q 34 rs371516793 0.8252 None gnomAD-3.1.2 2.63E-05
28185 32 R/Q 34 rs371516793 0.8252 None 1000 genomes 1.99681E-04
28185 32 R/Q 34 rs371516793 0.8252 None gnomAD-4.0.0 1.85965E-05
28186 33 V/L 35 None 0.2366 None gnomAD-4.0.0 1.59267E-06
28187 34 I/T 36 rs1221889321 0.4266 None gnomAD-2.1.1 4.03E-06
28187 34 I/T 36 rs1221889321 0.4266 None gnomAD-4.0.0 1.59257E-06
28187 34 I/V 36 rs2154159829 0.4266 None gnomAD-3.1.2 6.57E-06
28187 34 I/V 36 rs2154159829 0.4266 None gnomAD-4.0.0 2.0296E-06
28188 35 G/S 37 None 0.1356 None gnomAD-4.0.0 1.59265E-06
28189 36 Y/C 38 rs1489877895 0.1359 None gnomAD-2.1.1 4.03E-06
28189 36 Y/C 38 rs1489877895 0.1359 None gnomAD-4.0.0 3.18518E-06
28190 37 H/P 39 None 0.3143 None gnomAD-4.0.0 1.59244E-06
28190 37 H/Q 39 None 0.3143 None gnomAD-4.0.0 1.20032E-06
28190 37 H/R 39 rs1248103386 0.3143 None gnomAD-2.1.1 4.03E-06
28190 37 H/R 39 rs1248103386 0.3143 None gnomAD-3.1.2 6.57E-06
28190 37 H/R 39 rs1248103386 0.3143 None gnomAD-4.0.0 2.56354E-06
28190 37 H/Y 39 rs770757137 0.3143 None gnomAD-2.1.1 4.03E-06
28190 37 H/Y 39 rs770757137 0.3143 None gnomAD-4.0.0 1.59256E-06
28191 38 L/P 40 None 0.1106 None gnomAD-4.0.0 1.59245E-06
28192 39 E/K 41 rs879123930 0.1625 None gnomAD-3.1.2 6.57E-06
28192 39 E/K 41 rs879123930 0.1625 None gnomAD-4.0.0 2.47956E-06
28193 40 Y/C 42 rs935341485 0.3926 None gnomAD-2.1.1 4.03E-06
28193 40 Y/C 42 rs935341485 0.3926 None gnomAD-3.1.2 6.57E-06
28193 40 Y/C 42 rs935341485 0.3926 None gnomAD-4.0.0 4.95887E-06
28195 42 E/G 44 None 0.1405 None gnomAD-4.0.0 1.59262E-06
28196 43 R/S 50 rs773466308 0.4142 None gnomAD-2.1.1 1.61E-05
28196 43 R/S 50 rs773466308 0.4142 None gnomAD-3.1.2 4.6E-05
28196 43 R/S 50 rs773466308 0.4142 None gnomAD-4.0.0 1.67369E-05
28197 44 S/G 54 rs769905776 0.5791 None gnomAD-2.1.1 4.03E-06
28197 44 S/G 54 rs769905776 0.5791 None gnomAD-3.1.2 1.31E-05
28197 44 S/G 54 rs769905776 0.5791 None gnomAD-4.0.0 3.7192E-06
28197 44 S/R 54 rs781670887 0.5791 None gnomAD-2.1.1 1.61E-05
28197 44 S/R 54 rs781670887 0.5791 None gnomAD-4.0.0 2.0534E-06
28198 45 S/N 60 None 0.2413 None gnomAD-4.0.0 1.20032E-06
28198 45 S/T 60 rs886039057 0.2413 None gnomAD-4.0.0 1.20032E-05
28200 47 L/F 64 rs769081825 0.8060 None gnomAD-2.1.1 4.03E-06
28200 47 L/F 64 rs769081825 0.8060 None gnomAD-4.0.0 6.84426E-07
28200 47 L/V 64 None 0.8060 None gnomAD-4.0.0 6.84426E-07
28201 48 W/R 65 None 0.2523 None gnomAD-4.0.0 1.59245E-06
28202 49 S/P 66 None 0.2845 None gnomAD-4.0.0 1.5923E-06
28202 49 S/T 66 rs747544266 0.2845 None gnomAD-2.1.1 4.03E-06
28204 51 A/P 68 rs796775326 0.2496 None gnomAD-2.1.1 8.05E-06
28204 51 A/P 68 rs796775326 0.2496 None gnomAD-4.0.0 3.18459E-06
28204 51 A/V 68 rs1703657816 0.2496 None gnomAD-3.1.2 1.31E-05
28204 51 A/V 68 rs1703657816 0.2496 None gnomAD-4.0.0 3.84532E-06
28205 52 N/S 69 None 0.1672 None gnomAD-4.0.0 1.20032E-06
28207 54 I/N 72 None 0.9328 None gnomAD-4.0.0 2.40064E-06
28209 56 I/L 77 rs753472730 0.1262 None gnomAD-2.1.1 4.02E-06
28209 56 I/L 77 rs753472730 0.1262 None gnomAD-3.1.2 6.57E-06
28209 56 I/L 77 rs753472730 0.1262 None gnomAD-4.0.0 1.23956E-06
28209 56 I/T 77 rs1703653060 0.1262 None gnomAD-4.0.0 1.36862E-06
28209 56 I/V 77 rs753472730 0.1262 None gnomAD-2.1.1 8.05E-06
28209 56 I/V 77 rs753472730 0.1262 None gnomAD-3.1.2 1.31E-05
28209 56 I/V 77 rs753472730 0.1262 None gnomAD-4.0.0 5.57801E-06
28211 58 D/G 88 rs1168835158 0.5034 None gnomAD-2.1.1 4.02E-06
28211 58 D/G 88 rs1168835158 0.5034 None gnomAD-3.1.2 6.57E-06
28211 58 D/G 88 rs1168835158 0.5034 None gnomAD-4.0.0 3.71838E-06
28211 58 D/N 88 rs777440731 0.5034 None gnomAD-2.1.1 1.07E-05
28211 58 D/N 88 rs777440731 0.5034 None gnomAD-3.1.2 6.57E-06
28211 58 D/N 88 rs777440731 0.5034 None gnomAD-4.0.0 6.57237E-06
28212 59 T/I 89 rs527851457 0.2169 None gnomAD-2.1.1 2.41E-05
28212 59 T/I 89 rs527851457 0.2169 None gnomAD-3.1.2 1.31E-05
28212 59 T/I 89 rs527851457 0.2169 None 1000 genomes 1.99681E-04
28212 59 T/I 89 rs527851457 0.2169 None gnomAD-4.0.0 1.0249E-05
28212 59 T/P 89 None 0.2169 None gnomAD-4.0.0 1.59157E-06
28212 59 T/S 89 None 0.2169 None gnomAD-4.0.0 1.59156E-06
28214 61 M/L 91 None 0.2430 None gnomAD-4.0.0 6.84247E-07
28214 61 M/T 91 rs1007292303 0.2430 None gnomAD-4.0.0 1.23165E-05
28214 61 M/V 91 rs72648221 0.2430 None gnomAD-2.1.1 2.39253E-04
28214 61 M/V 91 rs72648221 0.2430 None gnomAD-3.1.2 3.02254E-04
28214 61 M/V 91 rs72648221 0.2430 None 1000 genomes 3.99361E-04
28214 61 M/V 91 rs72648221 0.2430 None gnomAD-4.0.0 4.67849E-04
28216 63 V/A 93 None 0.1957 None gnomAD-4.0.0 1.20032E-06
28217 64 S/F 94 rs888839405 0.6261 None gnomAD-2.1.1 4.02E-06
28217 64 S/F 94 rs888839405 0.6261 None gnomAD-3.1.2 1.31E-05
28217 64 S/F 94 rs888839405 0.6261 None gnomAD-4.0.0 1.3147E-05
28217 64 S/P 94 rs1271151421 0.6261 None gnomAD-2.1.1 2.86E-05
28217 64 S/P 94 rs1271151421 0.6261 None gnomAD-3.1.2 3.29E-05
28217 64 S/P 94 rs1271151421 0.6261 None gnomAD-4.0.0 8.67593E-06
28218 65 G/S 96 rs727504693 0.5618 None gnomAD-2.1.1 4.02E-05
28218 65 G/S 96 rs727504693 0.5618 None gnomAD-3.1.2 5.92E-05
28218 65 G/S 96 rs727504693 0.5618 None gnomAD-4.0.0 1.07213E-04
28220 67 D/G 98 None 0.6354 None gnomAD-4.0.0 1.59133E-06
28220 67 D/H 98 rs538385596 0.6354 None gnomAD-2.1.1 4.02E-06
28220 67 D/H 98 rs538385596 0.6354 None gnomAD-3.1.2 6.57E-06
28220 67 D/H 98 rs538385596 0.6354 None gnomAD-4.0.0 1.85912E-06
28220 67 D/N 98 rs538385596 0.6354 None gnomAD-2.1.1 4.02E-06
28220 67 D/N 98 rs538385596 0.6354 None gnomAD-3.1.2 6.57E-06
28220 67 D/N 98 rs538385596 0.6354 None 1000 genomes 1.99681E-04
28220 67 D/N 98 rs538385596 0.6354 None gnomAD-4.0.0 6.84229E-07
28221 68 E/G 99 None 0.5367 None gnomAD-4.0.0 1.20032E-06
28221 68 E/K 99 rs1309034017 0.5367 None gnomAD-2.1.1 3.19E-05
28221 68 E/K 99 rs1309034017 0.5367 None gnomAD-3.1.2 6.57E-06
28221 68 E/K 99 rs1309034017 0.5367 None gnomAD-4.0.0 6.57099E-06
28222 69 G/A 100 None 0.4114 None gnomAD-4.0.0 1.59132E-06
28224 71 M/I 103 rs761882110 0.2198 None gnomAD-2.1.1 4.02E-06
28224 71 M/I 103 rs761882110 0.2198 None gnomAD-4.0.0 4.10532E-06
28224 71 M/L 103 None 0.2198 None gnomAD-4.0.0 1.20033E-06
28224 71 M/R 103 None 0.2198 None gnomAD-4.0.0 6.84221E-07
28224 71 M/T 103 rs769942168 0.2198 None gnomAD-2.1.1 4.02E-06
28224 71 M/T 103 rs769942168 0.2198 None gnomAD-3.1.2 6.57E-06
28224 71 M/T 103 rs769942168 0.2198 None gnomAD-4.0.0 6.19695E-06
28225 72 Y/C 104 rs1703630700 0.1523 None gnomAD-3.1.2 6.57E-06
28225 72 Y/C 104 rs1703630700 0.1523 None gnomAD-4.0.0 6.57125E-06
28226 73 E/K 105 rs2154159665 0.1502 None gnomAD-3.1.2 6.57E-06
28226 73 E/K 105 rs2154159665 0.1502 None gnomAD-4.0.0 2.02963E-06
28228 75 R/C 107 rs776756769 0.1694 None gnomAD-2.1.1 2.01E-05
28228 75 R/C 107 rs776756769 0.1694 None gnomAD-3.1.2 6.58E-06
28228 75 R/C 107 rs776756769 0.1694 None gnomAD-4.0.0 9.29592E-06
28228 75 R/H 107 rs768301442 0.1694 None gnomAD-2.1.1 2.82E-05
28228 75 R/H 107 rs768301442 0.1694 None gnomAD-3.1.2 6.57E-06
28228 75 R/H 107 rs768301442 0.1694 None gnomAD-4.0.0 2.41684E-05
28228 75 R/P 107 rs768301442 0.1694 None gnomAD-2.1.1 4.02E-06
28228 75 R/P 107 rs768301442 0.1694 None gnomAD-4.0.0 6.8421E-07
28229 76 V/A 108 None 0.0690 None gnomAD-4.0.0 1.59122E-06
28229 76 V/I 108 rs747518737 0.0690 None gnomAD-2.1.1 4.02E-06
28229 76 V/I 108 rs747518737 0.0690 None gnomAD-4.0.0 1.59122E-06
28232 79 E/D 111 rs397517730 0.2647 None gnomAD-2.1.1 2.49471E-04
28232 79 E/D 111 rs397517730 0.2647 None gnomAD-3.1.2 5.92E-05
28232 79 E/D 111 rs397517730 0.2647 None 1000 genomes 7.98722E-04
28232 79 E/D 111 rs397517730 0.2647 None gnomAD-4.0.0 1.14634E-04
28236 83 G/E 115 rs1553564344 0.2082 None gnomAD-4.0.0 1.20032E-06
28236 83 G/R 115 None 0.2082 None gnomAD-4.0.0 1.59124E-06
28237 84 I/M 117 rs1703616150 0.5709 None gnomAD-4.0.0 2.73681E-06
28237 84 I/S 117 rs1479599357 0.5709 None gnomAD-4.0.0 1.59123E-06
28239 86 K/I 119 None 0.8617 None gnomAD-4.0.0 1.36842E-06
28239 86 K/R 119 None 0.8617 None gnomAD-4.0.0 6.84211E-07
28240 87 C/Y 120 rs1703613576 0.2615 None gnomAD-3.1.2 6.57E-06
28240 87 C/Y 120 rs1703613576 0.2615 None gnomAD-4.0.0 6.57281E-06
28243 90 S/F 123 rs746193654 0.3253 None gnomAD-2.1.1 8.05E-06
28243 90 S/F 123 rs746193654 0.3253 None gnomAD-4.0.0 2.05265E-06
28243 90 S/T 123 None 0.3253 None gnomAD-4.0.0 1.20032E-06
28243 90 S/Y 123 None 0.3253 None gnomAD-4.0.0 6.84218E-07
28244 91 C/R 124 rs1249814057 0.1264 None gnomAD-2.1.1 4.03E-06
28244 91 C/R 124 rs1249814057 0.1264 None gnomAD-4.0.0 1.59125E-06
28245 92 E/K 125 rs1481882166 0.7552 None gnomAD-4.0.0 1.20032E-06
28246 93 P/L 126 rs755762249 0.2370 None gnomAD-2.1.1 4.03E-06
28246 93 P/L 126 rs755762249 0.2370 None gnomAD-3.1.2 6.58E-06
28246 93 P/L 126 rs755762249 0.2370 None gnomAD-4.0.0 2.47892E-06
28248 95 P/L 129 None 0.4356 None gnomAD-4.0.0 1.20032E-06
28248 95 P/T 129 None 0.4356 None gnomAD-4.0.0 2.40064E-06
28249 96 A/T 130 rs1258499464 0.1130 None gnomAD-2.1.1 4.03E-06
28249 96 A/T 130 rs1258499464 0.1130 None gnomAD-4.0.0 1.59128E-06
28251 98 D/E 132 None 1.1799 None gnomAD-4.0.0 1.20032E-06
28251 98 D/N 132 None 1.1799 None gnomAD-4.0.0 1.20032E-06