A132T (p.Ala132Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A132T (p.Ala132Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- cosmic curated COSV10512
- TOPMed rs1010447542
- gnomAD rs1010447542
- Uncertain significance
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.09
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Phenylketonuria)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available