D43Y (p.Asp43Tyr) variant of PDE6B (P35913)
D43Y (p.Asp43Tyr) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD rs1405391370
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.35
- MetaLR 0.40
- MetaSVM -0.19
- CADD 22.30
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available