S67P (p.Ser67Pro) variant of PAH (Phenylalanine-4-hydroxylase)
S67P (p.Ser67Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as 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.
S67P (p.Ser67Pro) variant details
- p.Ser67Pro
- rs5030842
- ClinGen CA229481
- ClinVar RCV000088867
- ClinVar RCV001260324
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.95
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.00
- PolyPhen-2 1.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general… (PMID 9634518)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)