Q15* (p.Gln15Ter) variant of CLCN5 (P51795)
Q15* (p.Gln15Ter) in CLCN5 (P51795) 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.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- gnomAD X-50042342-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available