E76Q (p.Glu76Gln) variant of PAH (Phenylalanine-4-hydroxylase)
E76Q (p.Glu76Gln) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- ExAC rs762949770
- gnomAD rs762949770
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.62
- MetaLR 0.84
- MetaSVM 0.77
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.46
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available