R48L (p.Arg48Leu) variant of PDE6B (P35913)
R48L (p.Arg48Leu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- gnomAD 4-625769-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- CADD 13.30
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available