G34* (p.Gly34Ter) variant of CLCN1 (Chloride channel protein 1)
G34* (p.Gly34Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G34* (p.Gly34Ter) variant details
- p.Gly34Ter
- gnomAD 7-143316312-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available