Q3* (p.Gln3Ter) variant of CLCN1 (Chloride channel protein 1)
Q3* (p.Gln3Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating 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.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- gnomAD 7-143316219-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available