R54L (p.Arg54Leu) variant of MYO15A (Unconventional myosin-XV)
R54L (p.Arg54Leu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- gnomAD rs1453976133
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.88
- CADD 24.50
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available