L27R (p.Leu27Arg) variant of PDE6B (P35913)
L27R (p.Leu27Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L27R (p.Leu27Arg) variant details
- p.Leu27Arg
- gnomAD 4-625706-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.33
- CADD 25.40
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available