Q52* (p.Gln52Ter) variant of PDE6B (P35913)
Q52* (p.Gln52Ter) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- gnomAD 4-625780-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available