S28R (p.Ser28Arg) variant of PDE6B (P35913)
S28R (p.Ser28Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD rs1436573548
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.02
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available