Q5Q (p.Gln5Gln) variant of CLCN5 (P51795)
Q5Q (p.Gln5Gln) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- gnomAD X-49925313-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available