A322G (p.Ala322Gly) variant of PAH (Phenylalanine-4-hydroxylase)
A322G (p.Ala322Gly) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A322G (p.Ala322Gly) variant details
- p.Ala322Gly
- rs62514958
- ClinGen CA114363
- ClinVar RCV000000647
- ClinVar RCV000089177
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.86
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 0.65
- SIFT 0.05
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human… (PMID 1301187)
- Cited in: Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. (PMID 1301200)