V273M (p.Val273Met) variant of CLCN1 (Chloride channel protein 1)
V273M (p.Val273Met) 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 not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V273M (p.Val273Met) variant details
- p.Val273Met
- rs921162119
- ClinGen CA168258821
- ClinVar RCV000821657
- ClinVar RCV001091921
- Pathogenic
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.74
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)