S67Y (p.Ser67Tyr) variant of PAH (Phenylalanine-4-hydroxylase)
S67Y (p.Ser67Tyr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S67Y (p.Ser67Tyr) variant details
- p.Ser67Tyr
- rs2136702072
- ClinGen CA386304220
- ClinVar RCV003034020
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 0.98
- CADD 27.90
- PolyPhen-2 1.00
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Population evidence available
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)