Q52K (p.Gln52Lys) variant of PDE6B (P35913)
Q52K (p.Gln52Lys) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- gnomAD 4-625780-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.07
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available