L48S (p.Leu48Ser) variant of PAH (Phenylalanine-4-hydroxylase)
L48S (p.Leu48Ser) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L48S (p.Leu48Ser) variant details
- p.Leu48Ser
- rs5030841
- ClinGen CA251539
- ClinVar RCV000000639
- ClinVar RCV000078511
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.93
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Latino/Admixed American population (allele frequency 0.00098)
- 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)