L15R (p.Leu15Arg) variant of PAH (Phenylalanine-4-hydroxylase)
L15R (p.Leu15Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs1319374413
- ClinGen CA386303820
- ClinVar RCV002834999
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 0.14
- SIFT 0.22
- MutPred 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)