R35Q (p.Arg35Gln) variant of MYO15A (Unconventional myosin-XV)
R35Q (p.Arg35Gln) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYO15A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- cosmic curated COSV10956
- ExAC rs765495851
- TOPMed rs765495851
- gnomAD rs765495851
- Uncertain significance
- MYO15A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.77
- CADD 24.70
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (MYO15A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available