G6G (p.Gly6Gly) variant of CLCN5 (P51795)
G6G (p.Gly6Gly) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G6G (p.Gly6Gly) variant details
- p.Gly6Gly
- gnomAD X-50042317-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.71
- Population evidence available
- Structural context available
- Literature evidence available