R53H (p.Arg53His) variant of CLCN1 (Chloride channel protein 1)
R53H (p.Arg53His) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs750107386
- NCI-TCGA Cosmic COSV5836
- ExAC rs750107386
- TOPMed rs750107386
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- CADD 2.86
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available