A322T (p.Ala322Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A322T (p.Ala322Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A322T (p.Ala322Thr) variant details
- p.Ala322Thr
- rs62514957
- ClinGen CA229875
- ClinVar RCV000089176
- ClinVar RCV000797233
- Uncertain significance
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- AlphaMissense 0.66
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human… (PMID 1301187)
- Cited in: Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and… (PMID 9101291)