R53G (p.Arg53Gly) variant of CLCN1 (Chloride channel protein 1)
R53G (p.Arg53Gly) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- ExAC rs767366093
- TOPMed rs767366093
- gnomAD rs767366093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.23
- CADD 7.85
- PolyPhen-2 0.06
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available