P480L (p.Pro480Leu) variant of CLCN1 (Chloride channel protein 1)
P480L (p.Pro480Leu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P480L (p.Pro480Leu) variant details
- p.Pro480Leu
- rs80356694
- ClinGen CA258018
- ClinVar RCV000019089
- ClinVar RCV000020101
- Pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Myotonia caused by mutations in the muscle chloride channel gene CLCN1. (PMID 11933197)
- Cited in: Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID 12661046)