R45G (p.Arg45Gly) variant of CLCN1 (Chloride channel protein 1)
R45G (p.Arg45Gly) 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 recessive form; Congenital myotonia, autosomal do. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- rs371715660
- ClinGen CA4536827
- ClinVar RCV000560556
- 1000Genomes rs371715660
- Uncertain significance
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.29
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)