F55S (p.Phe55Ser) variant of PAH (Phenylalanine-4-hydroxylase)
F55S (p.Phe55Ser) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F55S (p.Phe55Ser) variant details
- p.Phe55Ser
- rs281865438
- ClinGen CA267639
- ClinVar RCV000106347
- Ensembl rs281865438
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)