Q13* (p.Gln13Ter) variant of CLCN1 (Chloride channel protein 1)
Q13* (p.Gln13Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- gnomAD 7-143316249-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available