R53A (p.Arg53Ala) variant of CLCN1 (Chloride channel protein 1)
R53A (p.Arg53Ala) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R53A (p.Arg53Ala) variant details
- p.Arg53Ala
- gnomAD 7-143316364-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 13.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available