F53C (p.Phe53Cys) variant of MYO15A (Unconventional myosin-XV)
F53C (p.Phe53Cys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F53C (p.Phe53Cys) variant details
- p.Phe53Cys
- TOPMed rs2045838609
- gnomAD rs2045838609
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.57
- ESM-1b 0.94
- AlphaMissense 0.99
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available