S46R (p.Ser46Arg) variant of PDE6B (P35913)
S46R (p.Ser46Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- ExAC rs749254565
- TOPMed rs749254565
- gnomAD rs749254565
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.83
- CADD 15.60
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available