E548K (p.Glu548Lys) variant of CLCN1 (Chloride channel protein 1)
E548K (p.Glu548Lys) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E548K (p.Glu548Lys) variant details
- p.Glu548Lys
- rs546411827
- ClinGen CA4537442
- NCI-TCGA Cosmic COSV5836
- ClinVar RCV001067172
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in a breast cancer sample)
- UniProt: Pathogenic (in a breast cancer sample)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)