E291K (p.Glu291Lys) variant of CLCN1 (Chloride channel protein 1)
E291K (p.Glu291Lys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E291K (p.Glu291Lys) variant details
- p.Glu291Lys
- rs121912805
- ClinGen CA258022
- NCI-TCGA Cosmic COSV5836
- ClinVar RCV000019093
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Myotonia caused by mutations in the muscle chloride channel gene CLCN1. (PMID 11933197)
- Cited in: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PMID 8533761)