F18L (p.Phe18Leu) variant of CLCN5 (P51795)
F18L (p.Phe18Leu) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- gnomAD X-50042349-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 24.20
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available