D13G (p.Asp13Gly) variant of PDE6B (P35913)
D13G (p.Asp13Gly) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- TOPMed rs1734050687
- gnomAD rs1734050687
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.36
- MetaLR 0.25
- MetaSVM -0.66
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available