H82R (p.His82Arg) variant of PAH (Phenylalanine-4-hydroxylase)
H82R (p.His82Arg) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The record also includes variant effect predictions and structural context.
H82R (p.His82Arg) variant details
- p.His82Arg
- gnomAD rs1349393789
- Missense
- MetaLR 0.66
- MetaSVM -0.05
- SIFT 0.21
- Structural context available