Q20P (p.Gln20Pro) variant of PAH (Phenylalanine-4-hydroxylase)
Q20P (p.Gln20Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- rs199475662
- ClinGen CA16020721
- ClinVar RCV000993600
- gnomAD rs199475662
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.45
- PolyPhen-2 0.01
- SIFT 0.08
- MutPred 0.53
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)