A309T (p.Ala309Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A309T (p.Ala309Thr) 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 0.72 / 1. The record also includes published literature and structural context.
A309T (p.Ala309Thr) variant details
- p.Ala309Thr
- rs1205657950
- ClinGen CA16021003
- ClinVar RCV001789829
- TOPMed rs1205657950
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.24
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.35
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)