S16P (p.Ser16Pro) variant of PAH (Phenylalanine-4-hydroxylase)
S16P (p.Ser16Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- rs62642946
- ClinGen CA229564
- ClinVar RCV000088937
- ClinVar RCV000993613
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.07
- MetaLR 0.88
- MetaSVM 0.67
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.77
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)