G190A (p.Gly190Ala) variant of CLCN1 (Chloride channel protein 1)
G190A (p.Gly190Ala) 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 Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G190A (p.Gly190Ala) variant details
- p.Gly190Ala
- ExAC rs746401512
- TOPMed rs746401512
- gnomAD rs746401512
- Pathogenic
- Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy)
- EBI: Likely pathogenic (in MCAR)
- UniProt: Likely pathogenic (in MCAR)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available