F53L (p.Phe53Leu) variant of MYO15A (Unconventional myosin-XV)
F53L (p.Phe53Leu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- gnomAD rs2045838654
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 17.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available