G285V (p.Gly285Val) variant of CLCN1 (Chloride channel protein 1)
G285V (p.Gly285Val) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G285V (p.Gly285Val) variant details
- p.Gly285Val
- rs150885084
- ClinGen CA369641489
- ClinVar RCV003002570
- ClinVar RCV005406553
- Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.91
- CADD 35.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Likely pathogenic (in MCAR)
- UniProt: Likely pathogenic (in MCAR)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)