M485V (p.Met485Val) variant of CLCN1 (Chloride channel protein 1)
M485V (p.Met485Val) 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 CLCN1-related myotonia congenita; Congenital myotonia, autosomal dominant form. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M485V (p.Met485Val) variant details
- p.Met485Val
- rs146457619
- ClinGen CA4537377
- ClinVar RCV000342021
- ClinVar RCV000638257
- Pathogenic
- CLCN1-related myotonia congenita; Congenital myotonia, autosomal dominant form
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.77
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.11
- ClinVar: Pathogenic (CLCN1-related myotonia congenita; Congenital myotonia, autosomal)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PMID 8533761)
- Cited in: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage… (PMID 9736777)