G200E (p.Gly200Glu) variant of CLCN1 (Chloride channel protein 1)
G200E (p.Gly200Glu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G200E (p.Gly200Glu) variant details
- p.Gly200Glu
- ExAC rs759508927
- gnomAD rs759508927
- Pathogenic
- Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy)
- UniProt: Pathogenic (in MCAD and MCAR)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available