V327I (p.Val327Ile) variant of CLCN1 (Chloride channel protein 1)
V327I (p.Val327Ile) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V327I (p.Val327Ile) variant details
- p.Val327Ile
- rs774396430
- ClinGen CA4537187
- ClinVar RCV000517879
- ClinVar RCV000638252
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal recessive form; Congenital myoton)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type… (PMID 7951242)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)