F306L (p.Phe306Leu) variant of CLCN1 (Chloride channel protein 1)
F306L (p.Phe306Leu) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F306L (p.Phe306Leu) variant details
- p.Phe306Leu
- rs1802702190
- ClinGen CA369641617
- ClinVar RCV001230055
- ClinVar RCV001780164
- Pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Pathogenic (Congenital myotonia, autosomal dominant form)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)