G46V (p.Gly46Val) variant of PAH (Phenylalanine-4-hydroxylase)
G46V (p.Gly46Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The record also includes variant effect predictions and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- Ensembl rs2136728171
- Missense
- MetaLR 1.00
- MetaSVM 0.93
- SIFT 0.00
- Structural context available