D17E (p.Asp17Glu) variant of PAH (Phenylalanine-4-hydroxylase)
D17E (p.Asp17Glu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- ESP rs150366430
- ExAC rs150366430
- gnomAD rs150366430
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available