R86L (p.Arg86Leu) variant of PAH (Phenylalanine-4-hydroxylase)
R86L (p.Arg86Leu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R86L (p.Arg86Leu) variant details
- p.Arg86Leu
- ExAC rs746603180
- TOPMed rs746603180
- gnomAD rs746603180
- Uncertain significance
- Missense
- MetaLR 0.81
- MetaSVM 0.14
- SIFT 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available