L46S (p.Leu46Ser) variant of CLCN1 (Chloride channel protein 1)
L46S (p.Leu46Ser) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L46S (p.Leu46Ser) variant details
- p.Leu46Ser
- gnomAD 7-143316347-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available