A300S (p.Ala300Ser) variant of PAH (Phenylalanine-4-hydroxylase)
A300S (p.Ala300Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A300S (p.Ala300Ser) variant details
- p.Ala300Ser
- rs5030853
- ClinGen CA273108
- ClinVar RCV000078536
- ClinVar RCV000150084
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. (PMID 11180595)