C40S (p.Cys40Ser) variant of PDE6B (P35913)
C40S (p.Cys40Ser) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
C40S (p.Cys40Ser) variant details
- p.Cys40Ser
- TOPMed rs1577233563
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available