E7Q (p.Glu7Gln) variant of PAH (Phenylalanine-4-hydroxylase)
E7Q (p.Glu7Gln) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- ExAC rs753312947
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.55
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available