P34Q (p.Pro34Gln) variant of CLCN5 (P51795)
P34Q (p.Pro34Gln) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- gnomAD X-50042398-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available