MYO15A (Unconventional myosin-XV) variants and mutations
MYO15A (also known as Unconventional myosin-XV) is a human protein-coding gene encoding an unconventional myosin-XV protein. An actin-based motor protein needed to build and maintain the stereocilia of inner-ear hair cells. Variants can cause severe nonsyndromic hearing loss. This analysis covers 5,475 MYO15A variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes hearing loss, autosomal recessive, deafness, and nonsyndromic genetic hearing loss. Example MYO15A variants include M1?, A2G, and A2T.
Variant analysis overview
- Gene: MYO15A
- Protein: Unconventional myosin-XV
- UniProt accession: Q9UKN7
- Organism: Homo sapiens
- Variants analyzed: 5475
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 5,042 unspecified-consequence records; 172 missense variants; 189 synonymous variants; 13 stop-gained variants; 14 in-frame deletions; 41 frameshift variants; 2 in-frame insertions; 3 substitution
- Prediction scores: 5,373 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hearing loss, autosomal recessive, deafness, nonsyndromic genetic hearing loss, Rare genetic deafness, Hearing impairment, hereditary disease, Abnormality of the ear, ear malformation, substance-related disorder, Intellectual disability, Congenital sensorineural hearing impairment, essential hypertension.
Protein structure and variant hotspots
- Protein features: 8 domains; 1 binding sites.
- Structural context: 1,940 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to MYO15A
Notable MYO15A variants
Examples include M1?, A2G, A2T, A2V, A2E, A2A, K3N, K3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV52765
- A2G (p.Ala2Gly), rs527582798, ClinGen CA288413070, ClinVar RCV003553174, 1000Genomes rs527582798, REVEL 0.27, ESM-1b 0.00, Conflicting interpretations, not provided
- A2T (p.Ala2Thr), cosmic curated COSV10506, ESM-1b 0.00, AlphaMissense 0.36
- A2V (p.Ala2Val), cosmic curated COSV52751, 1000Genomes rs527582798, ExAC rs527582798, TOPMed rs527582798, REVEL 0.23, ESM-1b 0.00, Likely benign
- A2E (p.Ala2Glu), gnomAD 17-18118805-C-A, REVEL 0.23, ESM-1b 0.00
- A2A (p.Ala2Ala), gnomAD 17-18118806-G-C, CADD 1.25
- K3N (p.Lys3Asn), ExAC rs765264486, gnomAD rs765264486, REVEL 0.19, ESM-1b 1.00, Likely benign
- K3R (p.Lys3Arg), ExAC rs762049589, TOPMed rs762049589, gnomAD rs762049589, REVEL 0.38, ESM-1b 0.00
- E4A (p.Glu4Ala), gnomAD rs1404154647, REVEL 0.33, ESM-1b 0.00, Uncertain significance, not provided
- E4Q (p.Glu4Gln), cosmic curated COSV10506, ESM-1b 0.00, AlphaMissense 0.50
- E4V (p.Glu4Val), cosmic curated COSV52757, ESM-1b 0.00, AlphaMissense 0.55
- E4* (p.Glu4Ter), gnomAD 17-18118810-G-T, CADD 36.00
- E5K (p.Glu5Lys), Ensembl rs2045833357, ESM-1b 0.00, AlphaMissense 0.54
- E5E (p.Glu5Glu), gnomAD 17-18118815-A-G, CADD 8.28
- D6H (p.Asp6His), gnomAD rs1283503325, ESM-1b 0.00, AlphaMissense 0.78
- D6N (p.Asp6Asn), gnomAD rs1283503325, ESM-1b 0.00, AlphaMissense 0.36, Uncertain significance, Inborn genetic diseases
- D6D (p.Asp6Asp), gnomAD 17-18118818-T-C, CADD 6.87
- E7* (p.Glu7Ter), cosmic curated COSV52751
- E7D (p.Glu7Asp), ExAC rs750512324, TOPMed rs750512324, gnomAD rs750512324, REVEL 0.28, ESM-1b 0.00, Likely benign
- E7K (p.Glu7Lys), TOPMed rs2045833497, REVEL 0.32, ESM-1b 0.00
- E7Q (p.Glu7Gln), gnomAD 17-18118819-G-C, REVEL 0.35, ESM-1b 0.00
- E7E (p.Glu7Glu), rs750512324, gnomAD 17-18118821-G-A, CADD 5.27
- E8K (p.Glu8Lys), Ensembl rs2045833823, REVEL 0.35, ESM-1b 0.00
- E8V (p.Glu8Val), rs2142235361, ClinGen CA398589243, ClinVar RCV001929755, Ensembl rs2142235361, ESM-1b 0.00, AlphaMissense 0.54, Uncertain significance, not provided
- E8del (p.Glu8del), rs894539321, gnomAD 17-18118818-TGAG-, CADD 19.30
- E8R (p.Glu8Arg), rs771345811, gnomAD 17-18118820-AG-A, CADD 20.70
- K9E (p.Lys9Glu), rs2545171632, ClinGen CA398589247, ClinVar RCV002284741, ESM-1b 0.00, AlphaMissense 0.50, Uncertain significance, not provided
- K9Q (p.Lys9Gln), rs2545171632, ClinGen CA398589246, ClinVar RCV002807943, REVEL 0.41, ESM-1b 0.36, Uncertain significance, Inborn genetic diseases
- K9R (p.Lys9Arg), ExAC rs758335963, gnomAD rs758335963, REVEL 0.42, ESM-1b 0.38, Uncertain significance, not provided
- K9K (p.Lys9Lys), rs779915837, gnomAD 17-18118827-G-A, CADD 10.80
- K10T (p.Lys10Thr), gnomAD rs1207229062, REVEL 0.50, ESM-1b 0.41
- K10P (p.Lys10Pro), rs1319049564, gnomAD 17-18118824-GAAGA, CADD 26.50
- K10R (p.Lys10Arg), gnomAD 17-18118829-A-G, REVEL 0.38, ESM-1b 0.71
- A11D (p.Ala11Asp), rs1264271225, ClinGen CA398589264, ClinVar RCV002281395, gnomAD rs1264271225, REVEL 0.42, ESM-1b 0.00, Uncertain significance, not provided
- A11V (p.Ala11Val), gnomAD rs1264271225, REVEL 0.36, ESM-1b 0.00, Uncertain significance
- p.Ala11 Lys13del, rs1567617546, gnomAD 17-18118824-GAAGA, CADD 19.30
- A11S (p.Ala11Ser), gnomAD 17-18118831-G-T, REVEL 0.42, ESM-1b 0.00
- A11A (p.Ala11Ala), rs751366010, gnomAD 17-18118833-C-T, CADD 10.50
- K12R (p.Lys12Arg), gnomAD 17-18118835-A-G, REVEL 0.38, ESM-1b 0.61
- G14A (p.Gly14Ala), TOPMed rs1218804992, ESM-1b 0.00, AlphaMissense 0.28
- G14R (p.Gly14Arg), gnomAD 17-18118840-G-A, REVEL 0.44, ESM-1b 0.95
- G14E (p.Gly14Glu), gnomAD 17-18118841-G-A, REVEL 0.40, ESM-1b 0.00
- G14G (p.Gly14Gly), gnomAD 17-18118842-G-A, CADD 7.90
- K15K (p.Lys15Lys), gnomAD 17-18118845-G-A, CADD 8.32
- K16E (p.Lys16Glu), gnomAD 17-18118846-A-G, REVEL 0.42, ESM-1b 0.47
- G17R (p.Gly17Arg), TOPMed rs2045834464, ESM-1b 0.89, AlphaMissense 0.83
- G17V (p.Gly17Val), cosmic curated COSV52768, ESM-1b 0.45, AlphaMissense 0.65
- G17A (p.Gly17Ala), gnomAD 17-18118850-G-C, REVEL 0.26, ESM-1b 0.00
- G17G (p.Gly17Gly), gnomAD 17-18118851-G-A, CADD 7.93
- K18N (p.Lys18Asn), cosmic curated COSV52755, REVEL 0.44, ESM-1b 1.00
- K18K (p.Lys18Lys), rs144909486, gnomAD 17-18118854-G-A, CADD 9.32
- K19N (p.Lys19Asn), gnomAD 17-18118857-G-C, REVEL 0.35, ESM-1b 1.00
- A20S (p.Ala20Ser), cosmic curated COSV52754, ESM-1b 0.00, AlphaMissense 0.25
- A20T (p.Ala20Thr), cosmic curated COSV52756, ESM-1b 0.00, AlphaMissense 0.34
- A20P (p.Ala20Pro), gnomAD 17-18118858-G-C, REVEL 0.35, ESM-1b 0.00
- A20A (p.Ala20Ala), rs1567617605, gnomAD 17-18118860-A-C, CADD 0.23
- P21L (p.Pro21Leu), ExAC rs747762338, TOPMed rs747762338, gnomAD rs747762338, REVEL 0.23, ESM-1b 0.77
- P21R (p.Pro21Arg), cosmic curated COSV11322, ExAC rs747762338, TOPMed rs747762338, gnomAD rs747762338, REVEL 0.26, ESM-1b 0.60
- P21S (p.Pro21Ser), gnomAD 17-18118861-C-T, REVEL 0.28, ESM-1b 0.07
- P21Q (p.Pro21Gln), gnomAD 17-18118862-C-A, REVEL 0.21, ESM-1b 0.00
- P21P (p.Pro21Pro), rs769609152, gnomAD 17-18118863-G-A, CADD 0.12
- E22G (p.Glu22Gly), gnomAD 17-18118865-A-G, REVEL 0.33, ESM-1b 0.00
- P23L (p.Pro23Leu), gnomAD rs2045834954, ESM-1b 0.50, AlphaMissense 0.55
- P23R (p.Pro23Arg), gnomAD rs2045834954, REVEL 0.32, ESM-1b 1.00
- P23P (p.Pro23Pro), rs777314668, gnomAD 17-18118869-G-A, CADD 0.13
- E24D (p.Glu24Asp), Ensembl rs532827422, REVEL 0.40, ESM-1b 0.35
- E24G (p.Glu24Gly), cosmic curated COSV11322, gnomAD rs1172409837, REVEL 0.43, ESM-1b 0.28
- E24K (p.Glu24Lys), cosmic curated COSV52763, ESM-1b 0.00, AlphaMissense 0.64
- K25R (p.Lys25Arg), gnomAD 17-18118874-A-G, REVEL 0.37, ESM-1b 0.00
- K25K (p.Lys25Lys), gnomAD 17-18118875-G-A, CADD 2.97
- P26A (p.Pro26Ala), ESP rs372395052, ExAC rs372395052, TOPMed rs372395052, gnomAD rs372395052, REVEL 0.29, ESM-1b 0.00
- P26H (p.Pro26His), Ensembl rs866958211, REVEL 0.30, ESM-1b 1.00, Uncertain significance
- P26L (p.Pro26Leu), rs866958211, ClinGen CA288413117, ClinVar RCV002809784, Ensembl rs866958211, ESM-1b 0.40, AlphaMissense 0.81, Uncertain significance, Inborn genetic diseases
- P26P (p.Pro26Pro), rs772626720, gnomAD 17-18118878-C-A, CADD 6.51
- K27E (p.Lys27Glu), TOPMed rs2045835495, REVEL 0.43, ESM-1b 0.11
- K27T (p.Lys27Thr), gnomAD 17-18118880-A-C, REVEL 0.46, ESM-1b 0.45
- R28Q (p.Arg28Gln), gnomAD rs1367209759, REVEL 0.39, ESM-1b 0.28
- R28W (p.Arg28Trp), cosmic curated COSV99231, ExAC rs775791438, TOPMed rs775791438, gnomAD rs775791438, REVEL 0.48, ESM-1b 0.81
- S29I (p.Ser29Ile), cosmic curated COSV52767, REVEL 0.42, ESM-1b 0.00
- S29N (p.Ser29Asn), TOPMed rs940000670, gnomAD rs940000670, REVEL 0.42, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S29S (p.Ser29Ser), gnomAD 17-18118887-C-T, CADD 10.00
- L30P (p.Leu30Pro), ExAC rs761255026, REVEL 0.70, ESM-1b 0.00
- L30R (p.Leu30Arg), gnomAD 17-18118889-T-G, REVEL 0.67, ESM-1b 0.00
- L30L (p.Leu30Leu), rs768956767, gnomAD 17-18118890-G-A, CADD 4.59
- K31R (p.Lys31Arg), rs760090242, gnomAD 17-18118890-GA-G, CADD 25.10
- K31N (p.Lys31Asn), gnomAD 17-18118893-G-C, REVEL 0.41, ESM-1b 0.88
- K31K (p.Lys31Lys), gnomAD 17-18118893-G-A, CADD 8.98
- G32E (p.Gly32Glu), cosmic curated COSV52766, REVEL 0.34, ESM-1b 0.00
- G32K (p.Gly32Lys), cosmic curated COSV10456, ESM-1b 0.00, AlphaMissense 0.99
- G32R (p.Gly32Arg), cosmic curated COSV52754, ESM-1b 0.00, AlphaMissense 0.98
- T33K (p.Thr33Lys), ExAC rs777015124, gnomAD rs777015124, REVEL 0.44, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T33M (p.Thr33Met), ExAC rs777015124, gnomAD rs777015124, REVEL 0.45, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- T33T (p.Thr33Thr), rs375382977, gnomAD 17-18118899-G-A, CADD 0.45
- S34L (p.Ser34Leu), gnomAD rs1215855230, REVEL 0.49, ESM-1b 0.00
- S34P (p.Ser34Pro), gnomAD 17-18118900-T-C, REVEL 0.50, ESM-1b 0.47
- S34S (p.Ser34Ser), gnomAD 17-18118902-G-A, CADD 0.62
- R35G (p.Arg35Gly), TOPMed rs1432464116, gnomAD rs1432464116, REVEL 0.58, ESM-1b 0.00, Uncertain significance
- R35L (p.Arg35Leu), ExAC rs765495851, TOPMed rs765495851, gnomAD rs765495851, ESM-1b 0.00, AlphaMissense 0.92, Uncertain significance
- R35P (p.Arg35Pro), rs765495851, ClinGen CA398589421, ClinVar RCV001983828, ExAC rs765495851, ESM-1b 0.00, AlphaMissense 0.99, Uncertain significance, not provided
- R35Q (p.Arg35Gln), cosmic curated COSV10956, ExAC rs765495851, TOPMed rs765495851, gnomAD rs765495851, REVEL 0.39, ESM-1b 0.00, Uncertain significance, MYO15A-related disorder
- R35W (p.Arg35Trp), cosmic curated COSV52751, TOPMed rs1432464116, gnomAD rs1432464116, REVEL 0.59, ESM-1b 0.57, Uncertain significance, Inborn genetic diseases
- R35R (p.Arg35Arg), gnomAD 17-18118903-C-A, CADD 8.33
- L36C (p.Leu36Cys), rs768198816, gnomAD 17-18118903-CG-C, CADD 24.40
- L36L (p.Leu36Leu), rs2045836588, gnomAD 17-18118908-G-C, CADD 1.10
- M38I (p.Met38Ile), 1000Genomes rs567455320, ExAC rs567455320, gnomAD rs567455320, cosmic curated COSV10506, REVEL 0.45, ESM-1b 0.00
- M38K (p.Met38Lys), cosmic curated COSV10439, ESM-1b 0.00, AlphaMissense 0.91
- M38L (p.Met38Leu), rs1359300875, ClinGen CA398589435, ClinVar RCV001915146, gnomAD rs1359300875, REVEL 0.35, ESM-1b 0.00, Uncertain significance, not provided
- M38V (p.Met38Val), cosmic curated COSV52759, gnomAD rs1359300875, REVEL 0.48, ESM-1b 0.00, Uncertain significance
- M38T (p.Met38Thr), gnomAD 17-18118913-T-C, REVEL 0.55, ESM-1b 0.00
- G39A (p.Gly39Ala), TOPMed rs1455120195, gnomAD rs1455120195, REVEL 0.47, ESM-1b 0.00
- G39S (p.Gly39Ser), cosmic curated COSV52758, ESM-1b 0.00, AlphaMissense 0.84
- G39C (p.Gly39Cys), gnomAD 17-18118915-G-T, REVEL 0.56, ESM-1b 1.00
- F40S (p.Phe40Ser), ExAC rs763010171, gnomAD rs763010171, REVEL 0.65, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- F40F (p.Phe40Phe), gnomAD 17-18118920-C-T, CADD 6.51
- R41C (p.Arg41Cys), cosmic curated COSV52756, 1000Genomes rs200234990, ExAC rs200234990, TOPMed rs200234990, REVEL 0.50, ESM-1b 1.00
- R41G (p.Arg41Gly), 1000Genomes rs200234990, ExAC rs200234990, TOPMed rs200234990, gnomAD rs200234990, REVEL 0.50, ESM-1b 0.00
- R41H (p.Arg41His), ExAC rs751394944, TOPMed rs751394944, gnomAD rs751394944, REVEL 0.42, ESM-1b 0.00
- R41A (p.Arg41Ala), rs1261664276, gnomAD 17-18118919-TC-T, CADD 20.90
- R41R (p.Arg41Arg), gnomAD 17-18118923-C-A, CADD 0.13
- D42N (p.Asp42Asn), ExAC rs754996079, gnomAD rs754996079, REVEL 0.26, ESM-1b 0.00
- D42Y (p.Asp42Tyr), gnomAD 17-18118924-G-T, REVEL 0.39, ESM-1b 0.00
- D42D (p.Asp42Asp), gnomAD 17-18118926-C-T, CADD 0.71
- R43C (p.Arg43Cys), ExAC rs767388920, TOPMed rs767388920, gnomAD rs767388920, REVEL 0.37, ESM-1b 1.00
- R43H (p.Arg43His), cosmic curated COSV99234, TOPMed rs923156097, gnomAD rs923156097, REVEL 0.32, ESM-1b 0.00
- R43R (p.Arg43Arg), gnomAD 17-18118929-T-A, CADD 5.54
- T44I (p.Thr44Ile), gnomAD rs1443856458, REVEL 0.39, ESM-1b 0.00, Uncertain significance, not provided
- T44T (p.Thr44Thr), gnomAD 17-18118932-A-C, CADD 4.44
- P45A (p.Pro45Ala), gnomAD rs1164143800, REVEL 0.33, ESM-1b 0.00
- P45L (p.Pro45Leu), TOPMed rs2045837621, ESM-1b 0.00, AlphaMissense 0.85
- P45P (p.Pro45Pro), rs2045837682, gnomAD 17-18118935-C-A, CADD 10.00
- K46N (p.Lys46Asn), cosmic curated COSV52754, ExAC rs755813626, TOPMed rs755813626, gnomAD rs755813626, REVEL 0.36, ESM-1b 0.47
- K46E (p.Lys46Glu), gnomAD 17-18118936-A-G, REVEL 0.46, ESM-1b 0.01
- K46K (p.Lys46Lys), rs755813626, gnomAD 17-18118938-G-A, CADD 9.04
- I47T (p.Ile47Thr), gnomAD rs1386840850, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- I47I (p.Ile47Ile), rs549511151, gnomAD 17-18118941-C-A, CADD 8.67
- S48del (p.Ser48del), gnomAD 17-18118940-TCTC-, CADD 17.00
- S48S (p.Ser48Ser), rs2045838011, gnomAD 17-18118944-C-A, CADD 9.62
- K49E (p.Lys49Glu), gnomAD 17-18118945-A-G, REVEL 0.50, ESM-1b 0.21
- K50R (p.Lys50Arg), gnomAD rs2045838216, REVEL 0.47, ESM-1b 0.00
- K50I (p.Lys50Ile), rs776139570, gnomAD 17-18118948-A-AT, CADD 24.70
- K50T (p.Lys50Thr), gnomAD 17-18118949-A-C, REVEL 0.44, ESM-1b 0.00
- K50K (p.Lys50Lys), rs1282616549, gnomAD 17-18118950-G-A, CADD 7.20
- G51D (p.Gly51Asp), 1000Genomes rs569331416, ExAC rs569331416, TOPMed rs569331416, gnomAD rs569331416, REVEL 0.52, ESM-1b 0.00
- G51S (p.Gly51Ser), rs748973041, ClinGen CA8422770, cosmic curated COSV52751, ClinVar RCV003441264, REVEL 0.35, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- G51G (p.Gly51Gly), rs778504453, gnomAD 17-18118953-C-T, CADD 4.55
- Q52H (p.Gln52His), ExAC rs747477704, REVEL 0.23, ESM-1b 0.00
- F53C (p.Phe53Cys), TOPMed rs2045838609, gnomAD rs2045838609, REVEL 0.57, ESM-1b 0.94
- F53L (p.Phe53Leu), gnomAD rs2045838654, REVEL 0.45, ESM-1b 0.00
- R54C (p.Arg54Cys), rs1381422765, ClinGen CA398589561, cosmic curated COSV52765, ClinVar RCV002287031, REVEL 0.63, ESM-1b 1.00, Uncertain significance, not provided
- R54L (p.Arg54Leu), gnomAD rs1453976133, REVEL 0.47, ESM-1b 0.00
- R54R (p.Arg54Arg), gnomAD 17-18118962-C-T, CADD 1.00
- S55R (p.Ser55Arg), ESP rs369442352, ExAC rs369442352, TOPMed rs369442352, gnomAD rs369442352, REVEL 0.40, ESM-1b 0.00, Likely benign
- S55I (p.Ser55Ile), gnomAD 17-18118964-G-T, REVEL 0.43, ESM-1b 0.00
- S55S (p.Ser55Ser), rs369442352, gnomAD 17-18118965-C-T, CADD 1.19
- A56T (p.Ala56Thr), cosmic curated COSV52768, ExAC rs748573149, TOPMed rs748573149, gnomAD rs748573149, REVEL 0.42, ESM-1b 0.00
- A56D (p.Ala56Asp), gnomAD 17-18118967-C-A, REVEL 0.57, ESM-1b 0.40
- S57* (p.Ser57Ter), rs770052089, ClinGen CA8422778, ClinVar RCV003677183, ExAC rs770052089, CADD 34.00, Pathogenic
- S57L (p.Ser57Leu), cosmic curated COSV52761, ExAC rs770052089, gnomAD rs770052089, REVEL 0.50, ESM-1b 0.00, Uncertain significance, not provided
- S57S (p.Ser57Ser), gnomAD 17-18118971-G-C, CADD 0.13
- A58T (p.Ala58Thr), Ensembl rs2045839091, REVEL 0.19, ESM-1b 0.00
- A58A (p.Ala58Ala), gnomAD 17-18118974-C-G, CADD 3.62
- F59I (p.Phe59Ile), rs933253559, ClinGen CA288413177, ClinVar RCV001994437, Ensembl rs933253559, ESM-1b 0.00, AlphaMissense 0.90, Uncertain significance, not provided
- F60L (p.Phe60Leu), ExAC rs763250174, gnomAD rs763250174, REVEL 0.40, ESM-1b 0.00
- F60F (p.Phe60Phe), gnomAD 17-18118980-C-T, CADD 10.90
- W61* (p.Trp61Ter), gnomAD rs1318913857
- W61R (p.Trp61Arg), gnomAD 17-18118980-CTGGG, CADD 27.50
- W61S (p.Trp61Ser), gnomAD 17-18118982-G-C, REVEL 0.54, ESM-1b 0.00
- G62D (p.Gly62Asp), rs1323385240, ClinGen CA398589641, ClinVar RCV002602399, ClinVar RCV006363188, REVEL 0.71, ESM-1b 0.00, Uncertain significance, not provided; Inborn genetic diseases
- G62V (p.Gly62Val), cosmic curated COSV52752, ESM-1b 0.62, AlphaMissense 0.95
- G62A (p.Gly62Ala), gnomAD 17-18118985-G-C, REVEL 0.63, ESM-1b 0.00
- L63F (p.Leu63Phe), gnomAD rs1202012319, REVEL 0.31, ESM-1b 0.00
- L63I (p.Leu63Ile), gnomAD 17-18118987-C-A, REVEL 0.35, ESM-1b 0.00
- H64Y (p.His64Tyr), cosmic curated COSV10506, ESM-1b 0.00, AlphaMissense 0.59
- T65I (p.Thr65Ile), cosmic curated COSV52766, ESM-1b 0.00, AlphaMissense 0.72
- T65S (p.Thr65Ser), TOPMed rs1461872151, gnomAD rs1461872151, REVEL 0.36, ESM-1b 0.00
- T65T (p.Thr65Thr), rs766321344, gnomAD 17-18118995-C-T, CADD 0.42
- G66C (p.Gly66Cys), TOPMed rs1244935895, gnomAD rs1244935895, ESM-1b 1.00, AlphaMissense 0.79
- G66S (p.Gly66Ser), cosmic curated COSV52753, TOPMed rs1244935895, gnomAD rs1244935895, REVEL 0.26, ESM-1b 0.00
- G66D (p.Gly66Asp), gnomAD 17-18118997-G-A, REVEL 0.33, ESM-1b 0.00
- P67A (p.Pro67Ala), cosmic curated COSV52760, ESM-1b 0.00, AlphaMissense 0.30
Public MYO15A analysis runs
- MYO15A analysis run — MYO15A (5,475 variants) — completed 2026-10-09