E76G (p.Glu76Gly) variant of PAH (Phenylalanine-4-hydroxylase)
E76G (p.Glu76Gly) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E76G (p.Glu76Gly) variant details
- p.Glu76Gly
- rs62507347
- ClinGen CA114373
- ClinVar RCV000000671
- ClinVar RCV000088878
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.64
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 0.99
- CADD 23.30
- PolyPhen-2 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. (PMID 11935335)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)