F18L (p.Phe18Leu) variant of PDE6B (P35913)
F18L (p.Phe18Leu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- gnomAD 4-625678-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available