M128V (p.Met128Val) variant of CLCN1 (Chloride channel protein 1)
M128V (p.Met128Val) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M128V (p.Met128Val) variant details
- p.Met128Val
- rs80356699
- ClinGen CA258030
- ClinVar RCV000019100
- ClinVar RCV000020109
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.80
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- 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: Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID 12661046)
- Cited in: Myotonia Congenita. (PMID 20301529)