V536A (p.Val536Ala) variant of CLCN1 (Chloride channel protein 1)
V536A (p.Val536Ala) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V536A (p.Val536Ala) variant details
- p.Val536Ala
- rs1175929008
- ClinGen CA369646388
- ClinVar RCV003786318
- ClinVar RCV005648309
- Conflicting interpretations
- not provided; Congenital myotonia, autosomal dominant form; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital myotonia, autosomal dominant form; Cong)
- EBI: Likely pathogenic (in MCAR)
- UniProt: Likely pathogenic (in MCAR)
- Most common in the African/African-American population (allele frequency 4.8e-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)