D84Y (p.Asp84Tyr) variant of PAH (Phenylalanine-4-hydroxylase)
D84Y (p.Asp84Tyr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D84Y (p.Asp84Tyr) variant details
- p.Asp84Tyr
- rs62514902
- ClinGen CA229500
- ClinVar RCV000088883
- ClinVar RCV000761308
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.82
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.70
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)