A313V (p.Ala313Val) variant of CLCN1 (Chloride channel protein 1)
A313V (p.Ala313Val) 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 recessive form; Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A313V (p.Ala313Val) variant details
- p.Ala313Val
- rs2116852322
- ClinGen CA369641667
- ClinVar RCV002267658
- ClinVar RCV005239340
- Pathogenic
- Congenital myotonia, autosomal recessive form; Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal recessive form; Skeletal muscle c)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)