E76A (p.Glu76Ala) variant of PAH (Phenylalanine-4-hydroxylase)
E76A (p.Glu76Ala) 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 0.59 / 1. The record also includes published literature and structural context.
E76A (p.Glu76Ala) variant details
- p.Glu76Ala
- rs62507347
- ClinGen CA229492
- ClinVar RCV000088877
- ClinVar RCV001389298
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.20
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.00
- SIFT 0.22
- EVE 0.09
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)