Q20H (p.Gln20His) variant of PAH (Phenylalanine-4-hydroxylase)
Q20H (p.Gln20His) 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 0.63 / 1. The record also includes published literature and structural context.
Q20H (p.Gln20His) variant details
- p.Gln20His
- rs199475688
- ClinGen CA229651
- ClinVar RCV000089006
- ClinVar RCV000993618
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.12
- MetaLR 0.84
- MetaSVM 0.82
- PolyPhen-2 0.16
- SIFT 0.03
- MutPred 0.80
- 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)