Q52R (p.Gln52Arg) variant of PDE6B (P35913)
Q52R (p.Gln52Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- gnomAD 4-625781-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available