A309S (p.Ala309Ser) variant of PAH (Phenylalanine-4-hydroxylase)
A309S (p.Ala309Ser) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A309S (p.Ala309Ser) variant details
- p.Ala309Ser
- rs1205657950
- ClinGen CA386291720
- ClinVar RCV001970548
- TOPMed rs1205657950
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.91
- AlphaMissense 0.24
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.20
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)