MYO15A
Chr 17ARmyosin XVA
Also known as: DFNB3, MYO15
This gene encodes an unconventional myosin that functions as an actin-based motor protein with ATPase activity and is required for proper stereocilia arrangement in cochlear hair cell bundles. Mutations cause autosomal recessive nonsyndromic deafness (DFNB3), which presents as profound congenital hearing loss. The gene shows extremely high constraint against loss-of-function variants (pLI ~1.0), indicating intolerance to haploinsufficiency in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYO15A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools