A331G (p.Ala331Gly) variant of CLCN1 (Chloride channel protein 1)
A331G (p.Ala331Gly) 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 not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A331G (p.Ala331Gly) variant details
- p.Ala331Gly
- rs2487059000
- ClinGen CA369641790
- ClinVar RCV003806967
- ClinVar RCV005416742
- Uncertain significance
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.83
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)