L98S (p.Leu98Ser) variant of PAH (Phenylalanine-4-hydroxylase)
L98S (p.Leu98Ser) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L98S (p.Leu98Ser) variant details
- p.Leu98Ser
- rs62517167
- ClinGen CA114368
- ClinVar RCV000000659
- ClinVar RCV000088892
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.09
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.01
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU… (PMID 8364546)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)