E55del (p.Glu55del) variant of PDE6B (P35913)
E55del (p.Glu55del) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E55del (p.Glu55del) variant details
- rs2109112982
- gnomAD 4-625784-TGGA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 17.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available