E54* (p.Glu54Ter) variant of PDE6B (P35913)
E54* (p.Glu54Ter) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- gnomAD 4-625786-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available