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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27279 2 P/L 5 rs776798967 0.6528 None gnomAD-3.1.2 1.32E-05
27279 2 P/L 5 rs776798967 0.6528 None gnomAD-4.0.0 1.31536E-05
27279 2 P/R 5 rs776798967 0.6528 None gnomAD-2.1.1 4.03E-06
27279 2 P/R 5 rs776798967 0.6528 None gnomAD-4.0.0 1.59181E-06
27279 2 P/S 5 rs1323358528 0.6528 None gnomAD-2.1.1 4.03E-06
27279 2 P/S 5 rs1323358528 0.6528 None gnomAD-3.1.2 6.58E-06
27280 3 K/T 6 None 0.2471 None gnomAD-4.0.0 1.20032E-06
27281 4 Y/C 7 rs769303800 0.1857 None gnomAD-2.1.1 4.03E-05
27281 4 Y/C 7 rs769303800 0.1857 None gnomAD-4.0.0 4.585E-05
27281 4 Y/H 7 rs1032656784 0.1857 None gnomAD-2.1.1 4.03E-06
27281 4 Y/H 7 rs1032656784 0.1857 None gnomAD-4.0.0 3.18379E-06
27282 5 K/E 8 rs761201021 0.8054 None gnomAD-2.1.1 2.5E-05
27282 5 K/E 8 rs761201021 0.8054 None gnomAD-3.1.2 2.63E-05
27282 5 K/E 8 rs761201021 0.8054 None gnomAD-4.0.0 4.09071E-05
27283 6 D/G 9 rs772380943 0.7559 None gnomAD-2.1.1 4.03E-06
27283 6 D/G 9 rs772380943 0.7559 None gnomAD-4.0.0 3.18421E-06
27283 6 D/H 9 rs776062891 0.7559 None gnomAD-2.1.1 4.03E-06
27283 6 D/H 9 rs776062891 0.7559 None gnomAD-4.0.0 1.59217E-06
27283 6 D/V 9 rs772380943 0.7559 None gnomAD-2.1.1 4.03E-06
27284 7 V/I 11 rs746222222 0.4818 None gnomAD-3.1.2 1.97E-05
27284 7 V/I 11 rs746222222 0.4818 None gnomAD-4.0.0 1.92153E-05
27286 9 V/A 14 rs1704824668 0.4115 None gnomAD-3.1.2 6.57E-06
27286 9 V/A 14 rs1704824668 0.4115 None gnomAD-4.0.0 3.04491E-06
27286 9 V/I 14 rs372784067 0.4115 None gnomAD-2.1.1 2.82E-05
27286 9 V/I 14 rs372784067 0.4115 None gnomAD-3.1.2 1.05168E-04
27286 9 V/I 14 rs372784067 0.4115 None gnomAD-4.0.0 2.60347E-05
27287 10 V/I 16 rs1704823668 0.1738 None gnomAD-3.1.2 6.57E-06
27287 10 V/I 16 rs1704823668 0.1738 None gnomAD-4.0.0 1.85963E-06
27288 11 H/R 18 None 0.4365 None gnomAD-4.0.0 1.20032E-06
27290 13 G/A 24 rs200240728 0.3106 None gnomAD-2.1.1 9.66E-05
27290 13 G/A 24 rs200240728 0.3106 None gnomAD-3.1.2 1.05175E-04
27290 13 G/A 24 rs200240728 0.3106 None 1000 genomes 1.99681E-04
27290 13 G/A 24 rs200240728 0.3106 None gnomAD-4.0.0 7.68625E-05
27290 13 G/R 24 rs786205377 0.3106 None gnomAD-4.0.0 3.60097E-06
27291 14 E/G 25 rs1197029579 0.3219 None gnomAD-4.0.0 1.59247E-06
27291 14 E/Q 25 None 0.3219 None gnomAD-4.0.0 2.05333E-06
27292 15 T/A 26 None 0.3832 None gnomAD-4.0.0 6.84442E-07
27292 15 T/I 26 rs1060500393 0.3832 None gnomAD-2.1.1 4.03E-06
27292 15 T/I 26 rs1060500393 0.3832 None gnomAD-4.0.0 1.30049E-05
27292 15 T/P 26 rs1421947280 0.3832 None gnomAD-2.1.1 4.03E-06
27292 15 T/P 26 rs1421947280 0.3832 None gnomAD-4.0.0 3.42221E-06
27292 15 T/S 26 None 0.3832 None gnomAD-4.0.0 2.0534E-06
27293 16 F/L 28 None 0.1665 None gnomAD-4.0.0 6.84439E-07
27293 16 F/S 28 rs751553517 0.1665 None gnomAD-2.1.1 4.03E-06
27293 16 F/S 28 rs751553517 0.1665 None gnomAD-4.0.0 3.60097E-06
27294 17 V/A 29 None 0.3385 None gnomAD-4.0.0 1.59253E-06
27294 17 V/G 29 rs876658084 0.3385 None gnomAD-4.0.0 1.59253E-06
27294 17 V/I 29 None 0.3385 None gnomAD-4.0.0 1.36892E-06
27295 18 L/V 30 None 0.1033 None gnomAD-4.0.0 1.20032E-06
27297 20 A/T 33 rs774451230 0.2516 None gnomAD-3.1.2 1.31E-05
27297 20 A/T 33 rs774451230 0.2516 None gnomAD-4.0.0 1.85972E-05
27298 21 D/A 34 rs557375464 0.8199 None gnomAD-2.1.1 4.03E-06
27298 21 D/A 34 rs557375464 0.8199 None gnomAD-3.1.2 6.57E-06
27298 21 D/A 34 rs557375464 0.8199 None 1000 genomes 1.99681E-04
27298 21 D/A 34 rs557375464 0.8199 None gnomAD-4.0.0 6.56737E-06
27298 21 D/G 34 None 0.8199 None gnomAD-4.0.0 1.59237E-06
27298 21 D/N 34 rs200697681 0.8199 None gnomAD-2.1.1 2.79264E-04
27298 21 D/N 34 rs200697681 0.8199 None gnomAD-3.1.2 1.64344E-04
27298 21 D/N 34 rs200697681 0.8199 None 1000 genomes 1.99681E-04
27298 21 D/N 34 rs200697681 0.8199 None gnomAD-4.0.0 1.59925E-04
27300 23 R/C 38 rs372530032 0.9457 None gnomAD-2.1.1 2.42E-05
27300 23 R/C 38 rs372530032 0.9457 None gnomAD-3.1.2 6.58E-06
27300 23 R/C 38 rs372530032 0.9457 None gnomAD-4.0.0 1.79772E-05
27300 23 R/H 38 rs55850344 0.9457 None gnomAD-2.1.1 3.58069E-04
27300 23 R/H 38 rs55850344 0.9457 None gnomAD-3.1.2 3.48409E-04
27300 23 R/H 38 rs55850344 0.9457 None gnomAD-4.0.0 4.20878E-04
27300 23 R/L 38 None 0.9457 None gnomAD-4.0.0 6.84436E-07
27303 26 P/L 42 None 0.4526 None gnomAD-4.0.0 2.05314E-06
27303 26 P/R 42 None 0.4526 None gnomAD-4.0.0 6.8438E-07
27304 27 I/T 43 rs753976208 0.5536 None gnomAD-2.1.1 2.86E-05
27304 27 I/T 43 rs753976208 0.5536 None gnomAD-3.1.2 1.97E-05
27304 27 I/T 43 rs753976208 0.5536 None gnomAD-4.0.0 2.23133E-05
27304 27 I/V 43 rs111362795 0.5536 None gnomAD-4.0.0 1.77933E-05
27305 28 P/S 44 rs1704786507 0.1761 None gnomAD-3.1.2 6.57E-06
27305 28 P/S 44 rs1704786507 0.1761 None gnomAD-4.0.0 2.03004E-06
27307 30 V/A 46 rs760826563 0.2972 None gnomAD-4.0.0 1.3686E-06
27307 30 V/D 46 None 0.2972 None gnomAD-4.0.0 6.843E-07
27308 31 V/F 47 rs1704782856 0.3417 None gnomAD-3.1.2 6.57E-06
27308 31 V/F 47 rs1704782856 0.3417 None gnomAD-4.0.0 4.95833E-06
27308 31 V/L 47 rs1704782856 0.3417 None gnomAD-4.0.0 6.84317E-07
27310 33 S/P 49 rs794727454 0.1623 None gnomAD-4.0.0 1.36856E-06
27313 36 G/E 52 rs199670463 0.5781 None gnomAD-2.1.1 5.83301E-04
27313 36 G/E 52 rs199670463 0.5781 None gnomAD-3.1.2 2.16974E-04
27313 36 G/E 52 rs199670463 0.5781 None 1000 genomes 1.39776E-03
27313 36 G/E 52 rs199670463 0.5781 None gnomAD-4.0.0 3.30932E-04
27313 36 G/R 52 rs786205298 0.5781 None gnomAD-4.0.0 6.84274E-07
27315 38 E/Q 56 None 0.6380 None gnomAD-4.0.0 1.20032E-06
27316 39 L/F 58 rs1704772471 0.2737 None gnomAD-3.1.2 6.57E-06
27316 39 L/F 58 rs1704772471 0.2737 None gnomAD-4.0.0 6.57488E-06
27317 40 E/Q 69 rs1434330338 0.8820 None gnomAD-2.1.1 4.03E-06
27317 40 E/Q 69 rs1434330338 0.8820 None gnomAD-3.1.2 6.57E-06
27317 40 E/Q 69 rs1434330338 0.8820 None gnomAD-4.0.0 3.09867E-06
27319 42 T/I 73 rs1175606376 0.8347 None gnomAD-2.1.1 4.03E-06
27320 43 A/T 74 rs56365600 0.3446 None gnomAD-2.1.1 5.99482E-03
27320 43 A/T 74 rs56365600 0.3446 None gnomAD-3.1.2 1.80091E-02
27320 43 A/T 74 rs56365600 0.3446 None 1000 genomes 1.61741E-02
27320 43 A/T 74 rs56365600 0.3446 None gnomAD-4.0.0 3.40585E-03
27321 44 A/G 102 rs1344170347 0.6830 None gnomAD-4.0.0 1.5914E-06
27321 44 A/T 102 None 0.6830 None gnomAD-4.0.0 3.60097E-06
27323 46 M/T 121 rs1176526187 0.2498 None gnomAD-2.1.1 4.03E-06
27323 46 M/T 121 rs1176526187 0.2498 None gnomAD-4.0.0 3.18262E-06
27324 47 E/G 122 None 0.4197 None gnomAD-4.0.0 6.84216E-07
27325 48 I/N 123 None 0.2490 None gnomAD-4.0.0 1.59128E-06
27325 48 I/T 123 rs1226922213 0.2490 None gnomAD-2.1.1 3.19E-05
27326 49 K/E 125 None 0.5902 None gnomAD-4.0.0 1.59129E-06
27326 49 K/I 125 None 0.5902 None gnomAD-4.0.0 2.73688E-06
27326 49 K/Q 125 rs747862533 0.5902 None gnomAD-2.1.1 4.03E-06
27326 49 K/Q 125 rs747862533 0.5902 None gnomAD-4.0.0 1.59129E-06
27327 50 S/A 127 rs1350432000 0.4481 None gnomAD-2.1.1 6.37E-05
27327 50 S/A 127 rs1350432000 0.4481 None gnomAD-3.1.2 2.63E-05
27327 50 S/A 127 rs1350432000 0.4481 None gnomAD-4.0.0 2.62961E-05
27328 51 T/A 130 rs376541881 0.4860 None gnomAD-2.1.1 1.21E-05
27328 51 T/A 130 rs376541881 0.4860 None gnomAD-3.1.2 2.63E-05
27328 51 T/A 130 rs376541881 0.4860 None gnomAD-4.0.0 4.02802E-05
27329 52 I/V 131 None 0.7191 None gnomAD-4.0.0 4.78953E-06
27330 53 Q/E 134 rs1205501595 0.6916 None gnomAD-2.1.1 4.03E-06
27330 53 Q/E 134 rs1205501595 0.6916 None gnomAD-4.0.0 1.5913E-06
27331 54 K/N 135 None 0.2930 None gnomAD-4.0.0 1.5913E-06
27332 55 T/I 136 None 0.1158 None gnomAD-4.0.0 6.84224E-07
27332 55 T/R 136 rs1485146094 0.1158 None gnomAD-2.1.1 4.03E-06
27332 55 T/R 136 rs1485146094 0.1158 None gnomAD-3.1.2 6.57E-06
27332 55 T/R 136 rs1485146094 0.1158 None gnomAD-4.0.0 1.85919E-06
27333 56 T/I 137 rs1277663410 0.2133 None gnomAD-2.1.1 4.03E-06
27333 56 T/I 137 rs1277663410 0.2133 None gnomAD-4.0.0 1.59131E-06
27335 58 V/G 139 rs1211654508 0.2175 None gnomAD-2.1.1 4.03E-06
27335 58 V/G 139 rs1211654508 0.2175 None gnomAD-4.0.0 1.59125E-06
27339 62 C/Y 144 None 0.0759 None gnomAD-4.0.0 4.10525E-06
27340 63 I/K 145 rs371592971 0.3046 None gnomAD-2.1.1 1.21E-05
27340 63 I/K 145 rs371592971 0.3046 None gnomAD-3.1.2 3.29E-05
27340 63 I/K 145 rs371592971 0.3046 None gnomAD-4.0.0 8.67598E-06
27340 63 I/T 145 rs371592971 0.3046 None gnomAD-3.1.2 6.57E-06
27340 63 I/T 145 rs371592971 0.3046 None gnomAD-4.0.0 4.9577E-06
27341 64 R/Q 146 rs555414240 0.1588 None gnomAD-2.1.1 2.82E-05
27341 64 R/Q 146 rs555414240 0.1588 None gnomAD-3.1.2 2.63E-05
27341 64 R/Q 146 rs555414240 0.1588 None 1000 genomes 1.99681E-04
27341 64 R/Q 146 rs555414240 0.1588 None gnomAD-4.0.0 2.41684E-05
27341 64 R/W 146 rs746488250 0.1588 None gnomAD-2.1.1 1.79E-05
27341 64 R/W 146 rs746488250 0.1588 None gnomAD-3.1.2 6.58E-06
27341 64 R/W 146 rs746488250 0.1588 None gnomAD-4.0.0 2.04521E-05
27342 65 T/I 148 rs758305003 0.4092 None gnomAD-2.1.1 2.01E-05
27342 65 T/I 148 rs758305003 0.4092 None gnomAD-3.1.2 1.31E-05
27342 65 T/I 148 rs758305003 0.4092 None gnomAD-4.0.0 3.07474E-05
27342 65 T/N 148 None 0.4092 None gnomAD-4.0.0 1.59125E-06
27343 66 D/G 149 None 0.1520 None gnomAD-4.0.0 1.59123E-06
27344 67 G/R 151 None 0.2085 None gnomAD-4.0.0 2.05265E-06
27345 68 G/E 152 rs745661221 0.2185 None gnomAD-2.1.1 4.03E-06
27345 68 G/E 152 rs745661221 0.2185 None gnomAD-4.0.0 1.36843E-06
27345 68 G/R 152 rs1304759548 0.2185 None gnomAD-2.1.1 4.03E-06
27345 68 G/R 152 rs1304759548 0.2185 None gnomAD-4.0.0 1.59126E-06
27347 70 Y/C 154 None 0.1094 None gnomAD-4.0.0 1.20034E-06
27347 70 Y/H 154 None 0.1094 None gnomAD-4.0.0 1.59125E-06
27350 73 K/Q 157 None 0.4671 None gnomAD-4.0.0 1.59125E-06
27351 74 L/H 158 None 0.2029 None gnomAD-4.0.0 1.20032E-06
27351 74 L/V 158 rs1398866994 0.2029 None gnomAD-2.1.1 4.02E-06
27351 74 L/V 158 rs1398866994 0.2029 None gnomAD-4.0.0 1.59123E-06
27353 76 N/S 161 rs1704729039 0.2078 None gnomAD-4.0.0 1.20032E-06
27354 77 V/A 162 None 0.8670 None gnomAD-4.0.0 6.84207E-07
27354 77 V/G 162 rs368023868 0.8670 None gnomAD-2.1.1 3.57E-05
27354 77 V/G 162 rs368023868 0.8670 None gnomAD-3.1.2 7.89E-05
27354 77 V/G 162 rs368023868 0.8670 None gnomAD-4.0.0 1.92112E-05
27354 77 V/I 162 rs878854336 0.8670 None gnomAD-2.1.1 1.21E-05
27354 77 V/I 162 rs878854336 0.8670 None gnomAD-3.1.2 6.57E-06
27354 77 V/I 162 rs878854336 0.8670 None gnomAD-4.0.0 6.8162E-06
27355 78 G/D 163 rs1474733241 0.6712 None gnomAD-2.1.1 4.02E-06
27355 78 G/D 163 rs1474733241 0.6712 None gnomAD-3.1.2 1.31E-05
27355 78 G/D 163 rs1474733241 0.6712 None gnomAD-4.0.0 3.71827E-06
27356 79 G/V 164 rs757116538 0.3682 None gnomAD-2.1.1 4.02E-06
27356 79 G/V 164 rs757116538 0.3682 None gnomAD-4.0.0 3.18257E-06
27357 80 T/R 165 rs754175266 0.5070 None gnomAD-2.1.1 1.61E-05
27357 80 T/R 165 rs754175266 0.5070 None gnomAD-3.1.2 6.58E-06
27357 80 T/R 165 rs754175266 0.5070 None gnomAD-4.0.0 1.54934E-05
27358 81 K/T 166 rs1483331348 0.5646 None gnomAD-2.1.1 4.02E-06
27358 81 K/T 166 rs1483331348 0.5646 None gnomAD-4.0.0 2.05265E-06
27359 82 S/P 168 rs1704715651 0.3574 None gnomAD-3.1.2 6.58E-06
27359 82 S/P 168 rs1704715651 0.3574 None gnomAD-4.0.0 6.57774E-06
27360 83 I/L 169 rs764393169 0.4194 None gnomAD-2.1.1 4.02E-06
27360 83 I/T 169 None 0.4194 None gnomAD-4.0.0 1.59134E-06
27361 84 P/A 171 rs56137800 0.5297 None gnomAD-2.1.1 2.54402E-03
27361 84 P/A 171 rs56137800 0.5297 None gnomAD-3.1.2 1.00613E-03
27361 84 P/A 171 rs56137800 0.5297 None 1000 genomes 4.99201E-03
27361 84 P/A 171 rs56137800 0.5297 None gnomAD-4.0.0 8.86783E-04
27362 85 I/V 172 rs886039181 0.1452 None gnomAD-2.1.1 1.07E-05
27362 85 I/V 172 rs886039181 0.1452 None gnomAD-3.1.2 1.31E-05
27362 85 I/V 172 rs886039181 0.1452 None gnomAD-4.0.0 1.3014E-05
27363 86 T/I 173 None 0.4279 None gnomAD-4.0.0 1.59134E-06
27364 87 V/A 174 rs981687121 0.1116 None gnomAD-3.1.2 1.97E-05
27364 87 V/A 174 rs981687121 0.1116 None gnomAD-4.0.0 3.71831E-06
27364 87 V/I 174 rs375407842 0.1116 None gnomAD-2.1.1 4.02E-06
27364 87 V/I 174 rs375407842 0.1116 None gnomAD-3.1.2 1.31E-05
27364 87 V/I 174 rs375407842 0.1116 None gnomAD-4.0.0 8.9682E-06
27364 87 V/L 174 rs375407842 0.1116 None gnomAD-2.1.1 4.02E-06
27364 87 V/L 174 rs375407842 0.1116 None gnomAD-4.0.0 1.59133E-06
27365 88 K/R 175 None 0.3779 None gnomAD-4.0.0 1.20032E-06