Y24* (p.Tyr24Ter) variant of CLCN1 (Chloride channel protein 1)
Y24* (p.Tyr24Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- gnomAD 7-143316284-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available