S56R (p.Ser56Arg) variant of PDE6B (P35913)
S56R (p.Ser56Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- gnomAD 4-625794-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.38
- CADD 12.60
- PolyPhen-2 0.79
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available