A531V (p.Ala531Val) variant of CLCN1 (Chloride channel protein 1)
A531V (p.Ala531Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A531V (p.Ala531Val) variant details
- p.Ala531Val
- rs80356704
- ClinGen CA341539
- ClinVar RCV000020102
- ClinVar RCV000638249
- Pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)