F55L (p.Phe55Leu) variant of PAH (Phenylalanine-4-hydroxylase)
F55L (p.Phe55Leu) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- rs199475598
- ClinGen CA273114
- ClinVar RCV000078512
- ClinVar RCV000150092
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.85
- MetaLR 0.96
- MetaSVM 1.05
- CADD 23.10
- PolyPhen-2 0.69
- SIFT 0.04
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Latino/Admixed American population (allele frequency 0.0016)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. (PMID 12501224)