Q60* (p.Gln60Ter) variant of CLCN1 (Chloride channel protein 1)
Q60* (p.Gln60Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- gnomAD 7-143316390-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available