G499R (p.Gly499Arg) variant of CLCN1 (Chloride channel protein 1)
G499R (p.Gly499Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G499R (p.Gly499Arg) variant details
- p.Gly499Arg
- rs121912807
- ClinGen CA258026
- ClinVar RCV000019096
- ClinVar RCV001382414
- Pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. (PMID 10644771)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)