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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3345 1 P/L 1 None 0.1628 None gnomAD-4.0.0 6.84103E-07
3345 1 P/R 1 None 0.1628 None gnomAD-4.0.0 6.84103E-07
3346 2 A/P 2 None 0.3144 None gnomAD-4.0.0 1.36819E-06
3346 2 A/T 2 None 0.3144 None gnomAD-4.0.0 6.84097E-07
3348 4 I/S 4 None 0.3277 None gnomAD-4.0.0 1.20032E-06
3349 5 T/A 5 rs777960129 0.3330 None gnomAD-2.1.1 3.98E-06
3349 5 T/A 5 rs777960129 0.3330 None gnomAD-4.0.0 7.52495E-06
3349 5 T/I 5 rs727503678 0.3330 None gnomAD-2.1.1 1.52137E-04
3349 5 T/I 5 rs727503678 0.3330 None gnomAD-3.1.2 7.23E-05
3349 5 T/I 5 rs727503678 0.3330 None gnomAD-4.0.0 3.59354E-05
3349 5 T/N 5 rs727503678 0.3330 None gnomAD-2.1.1 3.98E-06
3349 5 T/N 5 rs727503678 0.3330 None gnomAD-3.1.2 6.57E-06
3349 5 T/N 5 rs727503678 0.3330 None gnomAD-4.0.0 6.57013E-06
3350 6 P/L 7 rs139504522 0.4796 None gnomAD-2.1.1 1.8399E-04
3350 6 P/L 7 rs139504522 0.4796 None gnomAD-3.1.2 3.81153E-04
3350 6 P/L 7 rs139504522 0.4796 None 1000 genomes 1.99681E-04
3350 6 P/L 7 rs139504522 0.4796 None gnomAD-4.0.0 8.73562E-05
3350 6 P/Q 7 rs139504522 0.4796 None gnomAD-4.0.0 1.36818E-06
3350 6 P/S 7 rs1192725293 0.4796 None gnomAD-4.0.0 1.20032E-06
3353 9 D/N 11 None 0.5383 None gnomAD-4.0.0 1.5906E-06
3354 10 T/I 13 rs1487871864 0.1946 None gnomAD-3.1.2 6.57E-06
3354 10 T/I 13 rs1487871864 0.1946 None gnomAD-4.0.0 6.56996E-06
3355 11 V/F 14 None 0.5458 None gnomAD-4.0.0 6.8409E-07
3355 11 V/I 14 None 0.5458 None gnomAD-4.0.0 6.8409E-07
3355 11 V/L 14 None 0.5458 None gnomAD-4.0.0 6.8409E-07
3356 12 T/I 16 rs763323132 0.1772 None gnomAD-2.1.1 1.19E-05
3356 12 T/I 16 rs763323132 0.1772 None gnomAD-4.0.0 3.42046E-06
3356 12 T/S 16 None 0.1772 None gnomAD-4.0.0 6.84092E-07
3357 13 S/F 18 rs886042377 0.4132 None gnomAD-3.1.2 1.31E-05
3357 13 S/F 18 rs886042377 0.4132 None gnomAD-4.0.0 3.09792E-06
3357 13 S/T 18 None 0.4132 None gnomAD-4.0.0 2.40064E-06
3360 16 Q/H 25 None 0.4596 None gnomAD-4.0.0 6.84092E-07
3360 16 Q/K 25 rs1259534996 0.4596 None gnomAD-3.1.2 1.31E-05
3360 16 Q/K 25 rs1259534996 0.4596 None gnomAD-4.0.0 1.31427E-05
3361 17 P/L 26 rs879249930 0.4651 None gnomAD-2.1.1 3.98E-06
3361 17 P/L 26 rs879249930 0.4651 None gnomAD-3.1.2 6.57E-06
3361 17 P/L 26 rs879249930 0.4651 None gnomAD-4.0.0 2.56124E-06
3361 17 P/T 26 None 0.4651 None gnomAD-4.0.0 1.59061E-06
3362 18 A/G 28 rs2089943424 0.1502 None gnomAD-4.0.0 1.5906E-06
3362 18 A/P 28 None 0.1502 None gnomAD-4.0.0 1.20032E-06
3363 19 R/C 29 rs764030230 0.5542 None gnomAD-2.1.1 2.83E-05
3363 19 R/C 29 rs764030230 0.5542 None gnomAD-3.1.2 2.63E-05
3363 19 R/C 29 rs764030230 0.5542 None gnomAD-4.0.0 1.30118E-05
3363 19 R/G 29 None 0.5542 None gnomAD-4.0.0 6.84086E-07
3363 19 R/H 29 rs148169214 0.5542 None gnomAD-2.1.1 2.33473E-04
3363 19 R/H 29 rs148169214 0.5542 None gnomAD-3.1.2 7.42737E-04
3363 19 R/H 29 rs148169214 0.5542 None 1000 genomes 7.98722E-04
3363 19 R/H 29 rs148169214 0.5542 None gnomAD-4.0.0 1.52411E-04
3366 22 C/S 33 None 0.0791 None gnomAD-4.0.0 1.20032E-06
3366 22 C/Y 33 None 0.0791 None gnomAD-4.0.0 1.20032E-06
3367 23 R/Q 34 rs34819099 0.3475 None gnomAD-2.1.1 1.00805E-02
3367 23 R/Q 34 rs34819099 0.3475 None gnomAD-3.1.2 9.615E-03
3367 23 R/Q 34 rs34819099 0.3475 None 1000 genomes 3.79393E-03
3367 23 R/Q 34 rs34819099 0.3475 None gnomAD-4.0.0 1.47477E-02
3367 23 R/W 34 rs762791706 0.3475 None gnomAD-2.1.1 7.96E-06
3367 23 R/W 34 rs762791706 0.3475 None gnomAD-4.0.0 2.46272E-05
3368 24 V/A 35 rs149309988 0.1170 None gnomAD-2.1.1 3.98E-06
3368 24 V/A 35 rs149309988 0.1170 None gnomAD-3.1.2 6.57E-06
3368 24 V/A 35 rs149309988 0.1170 None 1000 genomes 1.99681E-04
3368 24 V/A 35 rs149309988 0.1170 None gnomAD-4.0.0 2.02961E-06
3368 24 V/F 35 None 0.1170 None gnomAD-4.0.0 6.84086E-07
3368 24 V/I 35 rs771921268 0.1170 None gnomAD-2.1.1 7.96E-06
3368 24 V/I 35 rs771921268 0.1170 None gnomAD-4.0.0 4.10452E-06
3368 24 V/L 35 rs771921268 0.1170 None gnomAD-3.1.2 6.57E-06
3368 24 V/L 35 rs771921268 0.1170 None gnomAD-4.0.0 1.2392E-06
3370 26 G/V 40 None 0.2891 None gnomAD-4.0.0 1.5906E-06
3371 27 T/I 41 rs1060500429 0.2927 None gnomAD-4.0.0 1.36818E-06
3371 27 T/R 41 rs1060500429 0.2927 None gnomAD-3.1.2 6.57E-06
3371 27 T/R 41 rs1060500429 0.2927 None gnomAD-4.0.0 6.57255E-06
3371 27 T/S 41 rs770930936 0.2927 None gnomAD-2.1.1 3.98E-06
3372 28 D/G 43 None 0.8315 None gnomAD-4.0.0 1.20032E-06
3372 28 D/H 43 rs749110401 0.8315 None gnomAD-2.1.1 3.98E-06
3372 28 D/V 43 None 0.8315 None gnomAD-4.0.0 2.40065E-06
3373 29 L/P 44 None 0.2301 None gnomAD-4.0.0 1.36831E-06
3374 30 K/E 45 rs770029258 0.7982 None gnomAD-2.1.1 4E-06
3374 30 K/E 45 rs770029258 0.7982 None gnomAD-4.0.0 6.15742E-06
3375 31 V/A 46 rs2088242575 0.2487 None gnomAD-4.0.0 1.59095E-06
3375 31 V/L 46 None 0.2487 None gnomAD-4.0.0 1.36831E-06
3376 32 S/L 47 rs781368765 0.1961 None gnomAD-2.1.1 2.49E-05
3376 32 S/L 47 rs781368765 0.1961 None gnomAD-3.1.2 3.29E-05
3376 32 S/L 47 rs781368765 0.1961 None gnomAD-4.0.0 9.29588E-06
3378 34 Y/H 49 rs2088238170 0.2799 None gnomAD-3.1.2 6.57E-06
3378 34 Y/H 49 rs2088238170 0.2799 None gnomAD-4.0.0 6.5697E-06
3378 34 Y/S 49 rs1275007573 0.2799 None gnomAD-4.0.0 1.59086E-06
3379 35 S/N 50 rs747136566 0.1556 None gnomAD-2.1.1 4E-05
3379 35 S/N 50 rs747136566 0.1556 None gnomAD-3.1.2 6.57E-06
3379 35 S/N 50 rs747136566 0.1556 None gnomAD-4.0.0 1.79698E-05
3380 36 K/R 51 rs984535715 0.3607 None gnomAD-2.1.1 4E-06
3380 36 K/R 51 rs984535715 0.3607 None gnomAD-4.0.0 9.57781E-06
3384 40 I/M 58 None 0.1370 None gnomAD-4.0.0 1.20032E-06
3384 40 I/S 58 None 0.1370 None gnomAD-4.0.0 1.20032E-06
3386 42 P/L 70 rs2088233776 0.6219 None gnomAD-4.0.0 1.59082E-06
3386 42 P/S 70 None 0.6219 None gnomAD-4.0.0 1.59081E-06
3388 44 R/L 111 None 0.8215 None gnomAD-4.0.0 6.84125E-07
3388 44 R/Q 111 rs187703540 0.8215 None gnomAD-2.1.1 7.165E-04
3388 44 R/Q 111 rs187703540 0.8215 None gnomAD-3.1.2 5.12901E-04
3388 44 R/Q 111 rs187703540 0.8215 None 1000 genomes 3.79393E-03
3388 44 R/Q 111 rs187703540 0.8215 None gnomAD-4.0.0 2.17483E-04
3388 44 R/W 111 rs758680640 0.8215 None gnomAD-2.1.1 2.13E-05
3388 44 R/W 111 rs758680640 0.8215 None gnomAD-3.1.2 1.32E-05
3388 44 R/W 111 rs758680640 0.8215 None gnomAD-4.0.0 4.0897E-05
3392 48 M/I 123 rs755671177 0.2740 None gnomAD-2.1.1 1.6E-05
3392 48 M/I 123 rs755671177 0.2740 None gnomAD-3.1.2 1.31E-05
3392 48 M/I 123 rs755671177 0.2740 None gnomAD-4.0.0 2.73646E-06
3392 48 M/K 123 None 0.2740 None gnomAD-4.0.0 3.60097E-06
3393 49 T/I 125 rs752227022 0.5626 None gnomAD-2.1.1 1.2E-05
3393 49 T/I 125 rs752227022 0.5626 None gnomAD-4.0.0 2.73646E-06
3393 49 T/S 125 rs752227022 0.5626 None gnomAD-2.1.1 3.99E-06
3393 49 T/S 125 rs752227022 0.5626 None gnomAD-4.0.0 6.84114E-07
3394 50 Q/R 127 None 0.4312 None gnomAD-4.0.0 1.20032E-06
3395 51 F/S 130 None 0.7278 None gnomAD-4.0.0 1.20032E-06
3396 52 E/K 131 None 0.5797 None gnomAD-4.0.0 6.84111E-07
3396 52 E/Q 131 None 0.5797 None gnomAD-4.0.0 6.84111E-07
3397 53 D/A 134 rs759238193 0.2429 None gnomAD-2.1.1 3.99E-06
3397 53 D/A 134 rs759238193 0.2429 None gnomAD-4.0.0 1.59074E-06
3397 53 D/E 134 rs773862320 0.2429 None gnomAD-2.1.1 7.97E-06
3397 53 D/E 134 rs773862320 0.2429 None gnomAD-4.0.0 6.15703E-06
3398 54 T/A 135 rs2088221144 0.1937 None gnomAD-3.1.2 6.57E-06
3398 54 T/A 135 rs2088221144 0.1937 None gnomAD-4.0.0 6.5697E-06
3402 58 E/K 139 rs766262957 0.2127 None gnomAD-2.1.1 2.48E-05
3402 58 E/K 139 rs766262957 0.2127 None gnomAD-3.1.2 4.6E-05
3402 58 E/K 139 rs766262957 0.2127 None gnomAD-4.0.0 1.85887E-05
3403 59 I/V 140 None 0.1037 None gnomAD-4.0.0 3.18144E-06
3404 60 A/D 141 None 0.1914 None gnomAD-4.0.0 1.59076E-06
3404 60 A/V 141 rs1471749833 0.1914 None gnomAD-2.1.1 3.99E-06
3404 60 A/V 141 rs1471749833 0.1914 None gnomAD-4.0.0 3.18152E-06
3405 61 E/K 143 rs1187665800 0.3521 None gnomAD-2.1.1 2.39E-05
3405 61 E/K 143 rs1187665800 0.3521 None gnomAD-3.1.2 1.97E-05
3405 61 E/K 143 rs1187665800 0.3521 None gnomAD-4.0.0 2.10666E-05
3410 66 D/N 149 None 0.2454 None gnomAD-4.0.0 1.20032E-06
3410 66 D/V 149 rs1436088108 0.2454 None gnomAD-3.1.2 6.57E-06
3410 66 D/V 149 rs1436088108 0.2454 None gnomAD-4.0.0 6.5697E-06
3411 67 E/K 151 rs2088211648 0.3466 None gnomAD-3.1.2 6.57E-06
3411 67 E/K 151 rs2088211648 0.3466 None gnomAD-4.0.0 6.57186E-06
3411 67 E/V 151 rs2088210968 0.3466 None gnomAD-3.1.2 6.57E-06
3411 67 E/V 151 rs2088210968 0.3466 None gnomAD-4.0.0 6.57117E-06
3412 68 G/R 152 None 0.1797 None gnomAD-4.0.0 3.18148E-06
3413 69 T/P 153 None 0.3905 None gnomAD-4.0.0 2.40065E-06
3414 70 Y/C 154 None 0.1183 None gnomAD-4.0.0 1.59076E-06
3414 70 Y/D 154 None 0.1183 None gnomAD-4.0.0 1.20036E-06
3415 71 T/M 155 rs761799688 0.2358 None gnomAD-2.1.1 1.55333E-04
3415 71 T/M 155 rs761799688 0.2358 None gnomAD-3.1.2 1.97E-05
3415 71 T/M 155 rs761799688 0.2358 None gnomAD-4.0.0 2.91229E-05
3415 71 T/S 155 rs1488856141 0.2358 None gnomAD-2.1.1 7.97E-06
3415 71 T/S 155 rs1488856141 0.2358 None gnomAD-4.0.0 3.18149E-06
3416 72 F/L 156 None 0.0893 None gnomAD-4.0.0 1.20032E-06
3419 75 S/G 159 rs1266502582 0.2215 None gnomAD-2.1.1 3.98E-06
3419 75 S/G 159 rs1266502582 0.2215 None gnomAD-4.0.0 7.52528E-06
3419 75 S/N 159 rs2291310 0.2215 None gnomAD-2.1.1 8.45905E-01
3419 75 S/N 159 rs2291310 0.2215 None gnomAD-3.1.2 8.73509E-01
3419 75 S/N 159 rs2291310 0.2215 None 1000 genomes 8.08906E-01
3419 75 S/N 159 rs2291310 0.2215 None gnomAD-4.0.0 9.00962E-01
3419 75 S/T 159 rs2291310 0.2215 None gnomAD-4.0.0 6.84116E-07
3420 76 N/H 161 rs1392369048 0.1706 None gnomAD-3.1.2 6.57E-06
3420 76 N/H 161 rs1392369048 0.1706 None gnomAD-4.0.0 6.40374E-06
3422 78 V/E 163 None 0.5196 None gnomAD-4.0.0 6.84123E-07
3422 78 V/G 163 rs1280394561 0.5196 None gnomAD-2.1.1 3.98E-06
3422 78 V/G 163 rs1280394561 0.5196 None gnomAD-4.0.0 6.84123E-07
3422 78 V/L 163 None 0.5196 None gnomAD-4.0.0 4.80129E-06
3423 79 G/D 164 rs1000268203 0.2449 None gnomAD-4.0.0 1.5908E-06
3423 79 G/S 164 rs2088199501 0.2449 None gnomAD-3.1.2 6.57E-06
3423 79 G/S 164 rs2088199501 0.2449 None gnomAD-4.0.0 6.57237E-06
3423 79 G/V 164 None 0.2449 None gnomAD-4.0.0 1.5908E-06
3424 80 Q/K 165 rs370865998 0.5734 None gnomAD-2.1.1 1.42E-05
3424 80 Q/K 165 rs370865998 0.5734 None gnomAD-3.1.2 1.97E-05
3424 80 Q/K 165 rs370865998 0.5734 None gnomAD-4.0.0 3.03636E-05
3425 81 V/E 166 None 0.1871 None gnomAD-4.0.0 1.20032E-06
3425 81 V/I 166 rs879184037 0.1871 None gnomAD-3.1.2 6.57E-06
3425 81 V/I 166 rs879184037 0.1871 None gnomAD-4.0.0 3.84228E-06
3426 82 S/L 168 rs2088194295 0.4971 None gnomAD-3.1.2 6.57E-06
3426 82 S/L 168 rs2088194295 0.4971 None gnomAD-4.0.0 6.57125E-06
3426 82 S/P 168 None 0.4971 None gnomAD-4.0.0 1.20032E-06
3427 83 S/N 169 rs368333336 0.1431 None gnomAD-2.1.1 1.06E-05
3427 83 S/N 169 rs368333336 0.1431 None gnomAD-3.1.2 3.94E-05
3427 83 S/N 169 rs368333336 0.1431 None gnomAD-4.0.0 8.05505E-06
3427 83 S/T 169 rs368333336 0.1431 None gnomAD-3.1.2 6.57E-06
3427 83 S/T 169 rs368333336 0.1431 None gnomAD-4.0.0 6.57151E-06
3428 84 T/I 171 None 0.5628 None gnomAD-4.0.0 4.80131E-06
3429 85 A/D 172 None 0.0888 None gnomAD-4.0.0 2.40066E-06
3429 85 A/G 172 None 0.0888 None gnomAD-4.0.0 1.20033E-06
3430 86 N/H 173 rs376029089 0.3575 None gnomAD-2.1.1 1.99E-05
3430 86 N/H 173 rs376029089 0.3575 None gnomAD-3.1.2 1.31E-05
3430 86 N/H 173 rs376029089 0.3575 None gnomAD-4.0.0 4.0894E-05
3430 86 N/S 173 None 0.3575 None gnomAD-4.0.0 1.20032E-06
3431 87 L/P 174 None 0.1165 None gnomAD-4.0.0 1.59082E-06
3432 88 S/N 175 rs1392831001 0.3275 None gnomAD-2.1.1 3.98E-06
3432 88 S/N 175 rs1392831001 0.3275 None gnomAD-4.0.0 4.7724E-06
3432 88 S/T 175 rs1392831001 0.3275 None gnomAD-3.1.2 6.57E-06
3432 88 S/T 175 rs1392831001 0.3275 None gnomAD-4.0.0 6.5716E-06
3433 89 L/P 176 None 0.2800 None gnomAD-4.0.0 6.84134E-07
3433 89 L/R 176 None 0.2800 None gnomAD-4.0.0 6.84134E-07