F39L (p.Phe39Leu) variant of PAH (Phenylalanine-4-hydroxylase)
F39L (p.Phe39Leu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- rs62642926
- ClinGen CA251537
- ClinVar RCV000000636
- ClinVar RCV000078504
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.75
- MetaLR 0.95
- MetaSVM 1.07
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.33
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 0.00035)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Molecular analysis of phenylketonuria (PKU) in newborns from Texas. (PMID 11385716)