G230E (p.Gly230Glu) variant of CLCN1 (Chloride channel protein 1)
G230E (p.Gly230Glu) 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 Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G230E (p.Gly230Glu) variant details
- p.Gly230Glu
- rs80356700
- ClinGen CA258012
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV000019084
- Pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAD and MCAR)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). (PMID 7981750)
- Cited in: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). (PMID 8112288)