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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28358 1 M/I 1 rs973736756 0.8554 None gnomAD-4.0.0 1.36835E-06
28358 1 M/K 1 None 0.8554 None gnomAD-2.1.1 4.02E-06
28358 1 M/L 1 rs368069666 0.8554 None gnomAD-2.1.1 1.79E-05
28358 1 M/L 1 rs368069666 0.8554 None gnomAD-3.1.2 1.97E-05
28358 1 M/L 1 rs368069666 0.8554 None gnomAD-4.0.0 2.85046E-05
28358 1 M/R 1 rs766947305 0.8554 None gnomAD-4.0.0 1.36836E-06
28358 1 M/T 1 rs766947305 0.8554 None gnomAD-2.1.1 4.02E-06
28358 1 M/T 1 rs766947305 0.8554 None gnomAD-4.0.0 2.05254E-06
28359 2 M/I 2 rs773774387 0.2881 None gnomAD-2.1.1 4.02E-06
28359 2 M/I 2 rs773774387 0.2881 None gnomAD-3.1.2 6.57E-06
28359 2 M/I 2 rs773774387 0.2881 None gnomAD-4.0.0 1.59109E-06
28359 2 M/R 2 rs763428327 0.2881 None gnomAD-2.1.1 4.02E-06
28359 2 M/R 2 rs763428327 0.2881 None gnomAD-4.0.0 6.84172E-07
28359 2 M/T 2 None 0.2881 None gnomAD-4.0.0 2.05252E-06
28360 3 D/H 3 None 0.3419 None gnomAD-4.0.0 1.20032E-06
28361 4 V/A 4 rs1428136058 0.6629 None gnomAD-2.1.1 4.02E-06
28361 4 V/A 4 rs1428136058 0.6629 None gnomAD-4.0.0 4.77321E-06
28364 7 R/P 8 None 0.7639 None gnomAD-4.0.0 6.84175E-07
28364 7 R/Q 8 rs376283153 0.7639 None gnomAD-2.1.1 1.50035E-04
28364 7 R/Q 8 rs376283153 0.7639 None gnomAD-3.1.2 1.44617E-04
28364 7 R/Q 8 rs376283153 0.7639 None gnomAD-4.0.0 4.77152E-05
28365 8 D/H 9 rs774971602 0.7725 None gnomAD-2.1.1 1.61E-05
28365 8 D/H 9 rs774971602 0.7725 None gnomAD-3.1.2 6.57E-06
28365 8 D/H 9 rs774971602 0.7725 None gnomAD-4.0.0 7.43607E-06
28366 9 V/A 11 rs1003730939 0.5006 None gnomAD-4.0.0 1.59109E-06
28366 9 V/I 11 rs367800789 0.5006 None gnomAD-2.1.1 3.22E-05
28366 9 V/I 11 rs367800789 0.5006 None gnomAD-3.1.2 1.31E-05
28366 9 V/I 11 rs367800789 0.5006 None gnomAD-4.0.0 3.65613E-05
28367 10 I/F 13 None 0.2032 None gnomAD-4.0.0 1.20032E-06
28367 10 I/T 13 rs1199614118 0.2032 None gnomAD-2.1.1 4.02E-06
28367 10 I/T 13 rs1199614118 0.2032 None gnomAD-3.1.2 6.57E-06
28367 10 I/T 13 rs1199614118 0.2032 None gnomAD-4.0.0 3.84294E-06
28367 10 I/V 13 None 0.2032 None gnomAD-4.0.0 1.20032E-06
28368 11 V/A 14 None 0.4242 None gnomAD-4.0.0 1.59107E-06
28368 11 V/F 14 rs879238395 0.4242 None gnomAD-2.1.1 3.19E-05
28368 11 V/F 14 rs879238395 0.4242 None gnomAD-3.1.2 6.57E-06
28368 11 V/F 14 rs879238395 0.4242 None gnomAD-4.0.0 4.33777E-06
28368 11 V/I 14 None 0.4242 None gnomAD-4.0.0 6.84179E-07
28369 12 V/A 16 None 0.1595 None gnomAD-4.0.0 1.20032E-06
28369 12 V/D 16 rs1703451641 0.1595 None gnomAD-3.1.2 6.57E-06
28369 12 V/D 16 rs1703451641 0.1595 None gnomAD-4.0.0 2.02995E-06
28370 13 K/R 18 rs1316361788 0.5672 None gnomAD-4.0.0 1.20032E-06
28372 15 G/E 24 rs190721759 0.3316 None gnomAD-2.1.1 1.28618E-04
28372 15 G/E 24 rs190721759 0.3316 None gnomAD-3.1.2 5.92E-05
28372 15 G/E 24 rs190721759 0.3316 None 1000 genomes 1.99681E-04
28372 15 G/E 24 rs190721759 0.3316 None gnomAD-4.0.0 3.24063E-04
28372 15 G/R 24 rs1323161898 0.3316 None gnomAD-2.1.1 4.02E-06
28372 15 G/R 24 rs1323161898 0.3316 None gnomAD-4.0.0 1.59109E-06
28373 16 E/D 25 rs770787056 0.3111 None gnomAD-2.1.1 2.5E-05
28373 16 E/D 25 rs770787056 0.3111 None gnomAD-3.1.2 1.97E-05
28373 16 E/D 25 rs770787056 0.3111 None gnomAD-4.0.0 1.7971E-05
28374 17 V/A 26 rs777681919 0.3560 None gnomAD-2.1.1 4.02E-06
28374 17 V/A 26 rs777681919 0.3560 None gnomAD-4.0.0 1.59111E-06
28374 17 V/D 26 rs777681919 0.3560 None gnomAD-2.1.1 1.21E-05
28374 17 V/D 26 rs777681919 0.3560 None gnomAD-4.0.0 9.54666E-06
28374 17 V/I 26 None 0.3560 None gnomAD-4.0.0 1.20032E-06
28376 19 K/Q 29 rs755843409 0.5318 None gnomAD-2.1.1 1.21E-05
28376 19 K/Q 29 rs755843409 0.5318 None gnomAD-3.1.2 6.57E-06
28376 19 K/Q 29 rs755843409 0.5318 None gnomAD-4.0.0 2.04492E-05
28376 19 K/T 29 None 0.5318 None gnomAD-4.0.0 7.20195E-06
28377 20 I/T 30 rs876658089 0.0939 None gnomAD-2.1.1 7.15E-06
28377 20 I/T 30 rs876658089 0.0939 None gnomAD-3.1.2 1.31E-05
28377 20 I/T 30 rs876658089 0.0939 None gnomAD-4.0.0 5.12418E-06
28378 21 N/K 31 rs1575618109 0.3940 None gnomAD-4.0.0 1.20032E-06
28378 21 N/S 31 None 0.3940 None gnomAD-4.0.0 1.59115E-06
28378 21 N/Y 31 rs1165610195 0.3940 None gnomAD-4.0.0 5.47351E-06
28380 23 D/H 34 None 0.5516 None gnomAD-4.0.0 6.84193E-07
28380 23 D/N 34 rs1703440197 0.5516 None gnomAD-4.0.0 6.84193E-07
28383 26 G/R 40 rs1333175409 0.3541 None gnomAD-2.1.1 4.03E-06
28383 26 G/R 40 rs1333175409 0.3541 None gnomAD-3.1.2 6.57E-06
28383 26 G/R 40 rs1333175409 0.3541 None gnomAD-4.0.0 1.20033E-06
28384 27 R/Q 41 rs1465916943 0.9302 None gnomAD-2.1.1 8.05E-06
28384 27 R/Q 41 rs1465916943 0.9302 None gnomAD-3.1.2 1.31E-05
28384 27 R/Q 41 rs1465916943 0.9302 None gnomAD-4.0.0 8.05636E-06
28387 30 P/L 44 rs1415760093 0.1936 None gnomAD-2.1.1 4.03E-06
28387 30 P/L 44 rs1415760093 0.1936 None gnomAD-3.1.2 6.58E-06
28387 30 P/L 44 rs1415760093 0.1936 None gnomAD-4.0.0 6.40612E-06
28387 30 P/S 44 rs561992231 0.1936 None gnomAD-2.1.1 4.03E-06
28387 30 P/S 44 rs561992231 0.1936 None gnomAD-3.1.2 1.97E-05
28387 30 P/S 44 rs561992231 0.1936 None 1000 genomes 1.99681E-04
28387 30 P/S 44 rs561992231 0.1936 None gnomAD-4.0.0 7.10468E-06
28388 31 V/E 45 rs1425261551 0.6627 None gnomAD-2.1.1 4.03E-06
28388 31 V/E 45 rs1425261551 0.6627 None gnomAD-4.0.0 3.1825E-06
28389 32 I/T 46 rs755134776 0.2942 None gnomAD-2.1.1 4.03E-06
28389 32 I/T 46 rs755134776 0.2942 None gnomAD-4.0.0 2.40064E-06
28390 33 S/F 47 rs267599032 0.3593 None gnomAD-4.0.0 1.20032E-06
28394 37 D/E 51 rs1703423853 0.5191 None gnomAD-4.0.0 3.18256E-06
28394 37 D/G 51 rs751635229 0.5191 None gnomAD-2.1.1 8.05E-06
28394 37 D/G 51 rs751635229 0.5191 None gnomAD-4.0.0 4.77386E-06
28395 38 G/S 52 None 0.5520 None gnomAD-4.0.0 1.20032E-06
28395 38 G/V 52 rs2154159192 0.5520 None gnomAD-4.0.0 1.36844E-06
28396 39 I/T 55 rs371320129 0.7992 None gnomAD-2.1.1 8.05E-06
28396 39 I/T 55 rs371320129 0.7992 None gnomAD-3.1.2 6.57E-06
28396 39 I/T 55 rs371320129 0.7992 None gnomAD-4.0.0 1.85915E-06
28396 39 I/V 55 rs1703421976 0.7992 None gnomAD-4.0.0 1.59128E-06
28397 40 E/D 56 None 0.7374 None gnomAD-4.0.0 1.36841E-06
28398 41 I/V 58 rs878970622 0.2221 None gnomAD-4.0.0 1.59124E-06
28399 42 E/K 69 rs397517732 0.6603 None gnomAD-2.1.1 1.21E-05
28399 42 E/K 69 rs397517732 0.6603 None gnomAD-3.1.2 6.57E-06
28399 42 E/K 69 rs397517732 0.6603 None gnomAD-4.0.0 2.85058E-05
28400 43 E/G 70 rs1179703111 0.6934 None gnomAD-2.1.1 4.02E-06
28400 43 E/G 70 rs1179703111 0.6934 None gnomAD-3.1.2 6.57E-06
28400 43 E/G 70 rs1179703111 0.6934 None gnomAD-4.0.0 1.85904E-06
28401 44 R/G 73 None 0.6099 None gnomAD-4.0.0 1.20032E-06
28401 44 R/K 73 None 0.6099 None gnomAD-4.0.0 1.20032E-06
28402 45 A/T 102 rs1060500439 0.8371 None gnomAD-3.1.2 6.57E-06
28402 45 A/T 102 rs1060500439 0.8371 None gnomAD-4.0.0 2.02998E-06
28402 45 A/V 102 None 0.8371 None gnomAD-4.0.0 1.36842E-06
28403 46 R/T 115 rs750869245 0.2977 None gnomAD-2.1.1 2.41E-05
28403 46 R/T 115 rs750869245 0.2977 None gnomAD-4.0.0 1.1139E-05
28404 47 T/I 121 rs368218177 0.2628 None gnomAD-2.1.1 4.02E-06
28404 47 T/I 121 rs368218177 0.2628 None gnomAD-3.1.2 6.57E-06
28404 47 T/I 121 rs368218177 0.2628 None gnomAD-4.0.0 2.02998E-06
28405 48 E/V 122 None 0.4650 None gnomAD-4.0.0 1.20032E-06
28406 49 I/T 123 rs1559292657 0.2389 None gnomAD-2.1.1 4.02E-06
28406 49 I/T 123 rs1559292657 0.2389 None gnomAD-4.0.0 1.59134E-06
28406 49 I/V 123 rs1703410550 0.2389 None gnomAD-4.0.0 3.18258E-06
28407 50 I/F 125 None 0.6034 None gnomAD-4.0.0 1.59131E-06
28410 53 D/E 131 rs762042364 0.7180 None gnomAD-2.1.1 4.02E-06
28410 53 D/E 131 rs762042364 0.7180 None gnomAD-3.1.2 6.57E-06
28410 53 D/E 131 rs762042364 0.7180 None gnomAD-4.0.0 6.40635E-06
28410 53 D/N 131 None 0.7180 None gnomAD-4.0.0 1.59153E-06
28410 53 D/V 131 rs1425562025 0.7180 None gnomAD-2.1.1 3.18E-05
28410 53 D/V 131 rs1425562025 0.7180 None gnomAD-3.1.2 6.57E-06
28410 53 D/V 131 rs1425562025 0.7180 None gnomAD-4.0.0 6.5697E-06
28411 54 N/D 134 None 0.6700 None gnomAD-4.0.0 1.20032E-06
28411 54 N/S 134 rs1254349060 0.6700 None gnomAD-3.1.2 6.57E-06
28411 54 N/S 134 rs1254349060 0.6700 None gnomAD-4.0.0 6.56996E-06
28413 56 T/A 136 None 0.1109 None gnomAD-4.0.0 1.20032E-06
28414 57 L/S 137 rs775228620 0.2513 None gnomAD-2.1.1 4.02E-06
28414 57 L/S 137 rs775228620 0.2513 None gnomAD-3.1.2 6.57E-06
28414 57 L/S 137 rs775228620 0.2513 None gnomAD-4.0.0 6.57108E-06
28414 57 L/W 137 None 0.2513 None gnomAD-4.0.0 1.20032E-06
28415 58 L/F 138 None 0.0931 None gnomAD-4.0.0 1.20032E-06
28417 60 V/A 140 None 0.1407 None gnomAD-4.0.0 2.40064E-06
28418 61 K/E 141 None 0.4457 None gnomAD-4.0.0 1.59151E-06
28418 61 K/N 141 rs759051213 0.4457 None gnomAD-2.1.1 4.02E-06
28418 61 K/N 141 rs759051213 0.4457 None gnomAD-4.0.0 1.59154E-06
28419 62 D/N 143 None 0.6406 None gnomAD-4.0.0 1.20032E-06
28419 62 D/Y 143 rs1703397478 0.6406 None gnomAD-4.0.0 1.20032E-06
28420 63 C/R 144 rs773918512 0.0902 None gnomAD-2.1.1 1.43E-05
28420 63 C/R 144 rs773918512 0.0902 None gnomAD-3.1.2 6.57E-06
28420 63 C/R 144 rs773918512 0.0902 None gnomAD-4.0.0 5.12502E-06
28421 64 I/K 145 rs749273378 0.2715 None gnomAD-2.1.1 4.02E-06
28421 64 I/K 145 rs749273378 0.2715 None gnomAD-4.0.0 1.59154E-06
28421 64 I/T 145 rs749273378 0.2715 None gnomAD-3.1.2 6.57E-06
28421 64 I/T 145 rs749273378 0.2715 None gnomAD-4.0.0 2.56253E-06
28421 64 I/V 145 rs371356428 0.2715 None gnomAD-2.1.1 4.02E-06
28421 64 I/V 145 rs371356428 0.2715 None gnomAD-3.1.2 6.57E-06
28421 64 I/V 145 rs371356428 0.2715 None gnomAD-4.0.0 3.71833E-06
28423 66 R/Q 148 rs747851682 0.6549 None gnomAD-2.1.1 1.21E-05
28423 66 R/Q 148 rs747851682 0.6549 None gnomAD-3.1.2 1.97E-05
28423 66 R/Q 148 rs747851682 0.6549 None gnomAD-4.0.0 8.67662E-06
28424 67 D/G 149 rs879049486 0.1621 None gnomAD-4.0.0 4.78984E-06
28425 68 T/A 151 None 0.3056 None gnomAD-4.0.0 6.00161E-06
28426 69 G/R 152 None 0.1833 None gnomAD-4.0.0 1.59162E-06
28429 72 V/E 155 rs747216991 0.2315 None gnomAD-2.1.1 8.05E-06
28429 72 V/E 155 rs747216991 0.2315 None gnomAD-3.1.2 1.31E-05
28429 72 V/E 155 rs747216991 0.2315 None gnomAD-4.0.0 7.68748E-06
28431 74 T/I 157 rs780326294 0.2475 None gnomAD-2.1.1 4.02E-06
28433 76 K/N 159 rs1444500550 0.6098 None gnomAD-2.1.1 1.21E-05
28433 76 K/N 159 rs1444500550 0.6098 None gnomAD-3.1.2 1.31E-05
28433 76 K/N 159 rs1444500550 0.6098 None gnomAD-4.0.0 3.1832E-06
28434 77 N/T 161 rs758519100 0.1876 None gnomAD-2.1.1 7.15E-06
28434 77 N/T 161 rs758519100 0.1876 None gnomAD-3.1.2 1.97E-05
28434 77 N/T 161 rs758519100 0.1876 None gnomAD-4.0.0 5.0747E-06
28435 78 V/A 162 None 0.8019 None gnomAD-4.0.0 2.05282E-06
28436 79 A/V 163 rs1559291915 0.6872 None gnomAD-2.1.1 3.19E-05
28436 79 A/V 163 rs1559291915 0.6872 None gnomAD-3.1.2 6.57E-06
28436 79 A/V 163 rs1559291915 0.6872 None gnomAD-4.0.0 6.57186E-06
28437 80 G/S 164 rs757770952 0.3472 None gnomAD-2.1.1 4.03E-06
28437 80 G/S 164 rs757770952 0.3472 None gnomAD-3.1.2 2.63E-05
28437 80 G/S 164 rs757770952 0.3472 None gnomAD-4.0.0 7.4373E-06
28438 81 T/S 165 None 0.5119 None gnomAD-4.0.0 2.40064E-06
28439 82 R/L 166 rs764437671 0.7830 None gnomAD-2.1.1 4.03E-06
28439 82 R/L 166 rs764437671 0.7830 None gnomAD-4.0.0 1.23172E-05
28439 82 R/P 166 None 0.7830 None gnomAD-4.0.0 1.36858E-06
28439 82 R/Q 166 rs764437671 0.7830 None gnomAD-2.1.1 3.22E-05
28439 82 R/Q 166 rs764437671 0.7830 None gnomAD-3.1.2 7.23E-05
28439 82 R/Q 166 rs764437671 0.7830 None gnomAD-4.0.0 2.60284E-05
28439 82 R/W 166 rs757653038 0.7830 None gnomAD-2.1.1 3.57E-05
28439 82 R/W 166 rs757653038 0.7830 None gnomAD-3.1.2 1.97E-05
28439 82 R/W 166 rs757653038 0.7830 None gnomAD-4.0.0 1.73534E-05
28441 84 V/A 169 None 0.4408 None gnomAD-4.0.0 6.8427E-07
28441 84 V/G 169 rs759245283 0.4408 None gnomAD-2.1.1 4.03E-06
28441 84 V/G 169 rs759245283 0.4408 None gnomAD-4.0.0 6.15843E-06
28442 85 A/P 171 None 0.3482 None gnomAD-4.0.0 1.59164E-06
28442 85 A/T 171 rs1440588329 0.3482 None gnomAD-3.1.2 6.57E-06
28442 85 A/T 171 rs1440588329 0.3482 None gnomAD-4.0.0 6.57091E-06
28443 86 V/D 172 rs1703365236 0.1460 None gnomAD-3.1.2 6.57E-06
28443 86 V/D 172 rs1703365236 0.1460 None gnomAD-4.0.0 3.84416E-06
28443 86 V/I 172 rs762332684 0.1460 None gnomAD-2.1.1 5.72E-05
28443 86 V/I 172 rs762332684 0.1460 None gnomAD-3.1.2 6.57E-06
28443 86 V/I 172 rs762332684 0.1460 None gnomAD-4.0.0 3.09875E-05
28444 87 N/D 173 None 0.4774 None gnomAD-4.0.0 1.20032E-06
28445 88 C/Y 174 rs773226749 0.1201 None gnomAD-2.1.1 2.82E-05
28445 88 C/Y 174 rs773226749 0.1201 None gnomAD-3.1.2 6.57E-05
28445 88 C/Y 174 rs773226749 0.1201 None gnomAD-4.0.0 1.17751E-05
28446 89 K/E 175 None 0.3647 None gnomAD-4.0.0 1.20032E-06
28447 90 V/L 177 rs1269228304 0.0961 None gnomAD-2.1.1 8.05E-06
28447 90 V/L 177 rs1269228304 0.0961 None gnomAD-4.0.0 3.18315E-06