Y22* (p.Tyr22Ter) variant of CLCN1 (Chloride channel protein 1)
Y22* (p.Tyr22Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y22* (p.Tyr22Ter) variant details
- p.Tyr22Ter
- gnomAD 7-143316278-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available