R53P (p.Arg53Pro) variant of CLCN1 (Chloride channel protein 1)
R53P (p.Arg53Pro) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R53P (p.Arg53Pro) variant details
- p.Arg53Pro
- gnomAD 7-143316364-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available