V536L (p.Val536Leu) variant of CLCN1 (Chloride channel protein 1)
V536L (p.Val536Leu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V536L (p.Val536Leu) variant details
- p.Val536Leu
- rs777685454
- ClinGen CA369646385
- ClinVar RCV003781079
- ClinVar RCV005934889
- Likely pathogenic
- Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal do
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: 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 1.5e-05)
- Structural context available
- Cited in: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. (PMID 22521272)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)