G63A (p.Gly63Ala) variant of CLCN1 (Chloride channel protein 1)
G63A (p.Gly63Ala) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G63A (p.Gly63Ala) variant details
- p.Gly63Ala
- gnomAD 7-143319760-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available