V229M (p.Val229Met) variant of CLCN1 (Chloride channel protein 1)
V229M (p.Val229Met) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V229M (p.Val229Met) variant details
- p.Val229Met
- rs761601545
- ClinGen CA4537035
- ClinVar RCV001296750
- ClinVar RCV003145518
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.73
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- 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)