D45Y (p.Asp45Tyr) variant of PDE6B (P35913)
D45Y (p.Asp45Tyr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- gnomAD 4-625759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.082
- REVEL 0.11
- CADD 0.20
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available