A35D (p.Ala35Asp) variant of PDE6B (P35913)
A35D (p.Ala35Asp) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- gnomAD 4-625730-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.13
- CADD 11.50
- PolyPhen-2 0.43
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available