A47E (p.Ala47Glu) variant of PAH (Phenylalanine-4-hydroxylase)
A47E (p.Ala47Glu) 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 0.61 / 1. The record also includes structural context.
A47E (p.Ala47Glu) variant details
- p.Ala47Glu
- rs118203925
- ClinGen CA229441
- ClinVar RCV000088838
- TOPMed rs118203925
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.22
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 0.12
- SIFT 0.06
- EVE 0.13
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available