E5K (p.Glu5Lys) variant of PDE6B (P35913)
E5K (p.Glu5Lys) 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 and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- Ensembl rs898928851
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -0.98
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available