L3F (p.Leu3Phe) variant of PDE6B (P35913)
L3F (p.Leu3Phe) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- gnomAD 4-625633-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available