F23L (p.Phe23Leu) variant of PDE6B (P35913)
F23L (p.Phe23Leu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- gnomAD 4-625693-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- CADD 24.00
- PolyPhen-2 0.51
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available