E193K (p.Glu193Lys) variant of CLCN1 (Chloride channel protein 1)
E193K (p.Glu193Lys) 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; 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.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- rs80356686
- ClinGen CA341547
- NCI-TCGA Cosmic COSV5837
- ClinVar RCV001208684
- Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD)
- UniProt: Pathogenic (in MCAD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID 12661046)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)