S6* (p.Ser6Ter) variant of CLCN1 (Chloride channel protein 1)
S6* (p.Ser6Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S6* (p.Ser6Ter) variant details
- p.Ser6Ter
- gnomAD 7-143316229-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available