p.Glu54 Ile70delinsVal variant of PDE6B (P35913)
p.Glu54 Ile70delinsVal in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu54 Ile70delinsVal variant details
- gnomAD 4-625786-GAGGAGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 18.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available