P480S (p.Pro480Ser) variant of CLCN1 (Chloride channel protein 1)
P480S (p.Pro480Ser) 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 dominant form; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P480S (p.Pro480Ser) variant details
- p.Pro480Ser
- rs80356695
- ClinGen CA369645355
- ClinVar RCV001253400
- ClinVar RCV005437042
- Likely pathogenic
- Congenital myotonia, autosomal dominant form; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal dominant form; not provided)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- 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)