E56D (p.Glu56Asp) variant of PAH (Phenylalanine-4-hydroxylase)
E56D (p.Glu56Asp) 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 0.66 / 1. The record also includes published literature and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- rs199475567
- ClinGen CA229459
- ClinVar RCV000088852
- ClinVar RCV001543635
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.75
- MetaLR 0.90
- MetaSVM 0.71
- PolyPhen-2 0.00
- SIFT 0.04
- EVE 0.17
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human… (PMID 1301187)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)