I94S (p.Ile94Ser) variant of PAH (Phenylalanine-4-hydroxylase)
I94S (p.Ile94Ser) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I94S (p.Ile94Ser) variant details
- p.Ile94Ser
- rs62508677
- ClinGen CA229505
- ClinVar RCV000088889
- ClinVar RCV000673537
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.75
- MetaLR 0.94
- MetaSVM 1.09
- CADD 22.70
- PolyPhen-2 0.25
- SIFT 0.09
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)