A156P (p.Ala156Pro) variant of PAH (Phenylalanine-4-hydroxylase)
A156P (p.Ala156Pro) 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 0.82 / 1. The record also includes published literature and structural context.
A156P (p.Ala156Pro) variant details
- p.Ala156Pro
- rs199475686
- ClinGen CA229562
- ClinVar RCV000088936
- ClinVar RCV003479002
- Uncertain significance
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.29
- SIFT 0.02
- EVE 0.50
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)