I97V (p.Ile97Val) variant of PAH (Phenylalanine-4-hydroxylase)
I97V (p.Ile97Val) 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.
I97V (p.Ile97Val) variant details
- p.Ile97Val
- 1000Genomes rs142516271
- ESP rs142516271
- ExAC rs142516271
- TOPMed rs142516271
- Uncertain significance
- Missense
- MetaLR 0.88
- MetaSVM 0.48
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available