R9P (p.Arg9Pro) variant of CLCN1 (Chloride channel protein 1)
R9P (p.Arg9Pro) 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 0.12 / 1. The record also includes population frequency data and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- 1000Genomes rs115379077
- ESP rs115379077
- ExAC rs115379077
- TOPMed rs115379077
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.17
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available