R43C (p.Arg43Cys) variant of MYO15A (Unconventional myosin-XV)
R43C (p.Arg43Cys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- ExAC rs767388920
- TOPMed rs767388920
- gnomAD rs767388920
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available