S16Y (p.Ser16Tyr) variant of PAH (Phenylalanine-4-hydroxylase)
S16Y (p.Ser16Tyr) 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.
S16Y (p.Ser16Tyr) variant details
- p.Ser16Tyr
- rs1592991188
- ClinGen CA16020719
- ClinVar RCV000993598
- Ensembl rs1592991188
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.70
- PolyPhen-2 0.01
- SIFT 0.10
- MutPred 0.38
- 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)