A373T (p.Ala373Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A373T (p.Ala373Thr) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A373T (p.Ala373Thr) variant details
- p.Ala373Thr
- rs62508717
- ClinGen CA229351
- ClinVar RCV000088762
- ClinVar RCV002259583
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.74
- MetaLR 0.98
- MetaSVM 1.08
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)