L198V (p.Leu198Val) variant of CLCN1 (Chloride channel protein 1)
L198V (p.Leu198Val) 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 dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L198V (p.Leu198Val) variant details
- p.Leu198Val
- rs80356685
- ClinGen CA341549
- ClinVar RCV000517112
- ClinVar RCV000545021
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- CADD 25.10
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the REMAINING population (allele frequency 1.7e-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)