S46G (p.Ser46Gly) variant of PDE6B (P35913)
S46G (p.Ser46Gly) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- gnomAD 4-625762-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- CADD 17.30
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available