D17E (p.Asp17Glu) variant of PDE6B (P35913)
D17E (p.Asp17Glu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- gnomAD 4-625677-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0983
- REVEL 0.05
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available