S87R (p.Ser87Arg) variant of PAH (Phenylalanine-4-hydroxylase)
S87R (p.Ser87Arg) 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 population frequency data, published literature, and structural context.
S87R (p.Ser87Arg) variant details
- p.Ser87Arg
- rs62516151
- ClinGen CA114359
- ClinVar RCV000000613
- ClinVar RCV000088884
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.63
- MetaLR 0.87
- MetaSVM 0.63
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.35
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. (PMID 8088845)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)