A50A (p.Ala50Ala) variant of CLCN1 (Chloride channel protein 1)
A50A (p.Ala50Ala) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A50A (p.Ala50Ala) variant details
- p.Ala50Ala
- gnomAD 7-143316362-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.088
- CADD 1.04
- Population evidence available
- Structural context available
- Literature evidence available