D13E (p.Asp13Glu) variant of PDE6B (P35913)
D13E (p.Asp13Glu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- ExAC rs762059087
- gnomAD rs762059087
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.06
- CADD 4.54
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available