G63D (p.Gly63Asp) variant of CLCN1 (Chloride channel protein 1)
G63D (p.Gly63Asp) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- gnomAD 7-143319762-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.61
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available