D27E (p.Asp27Glu) variant of PAH (Phenylalanine-4-hydroxylase)
D27E (p.Asp27Glu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- Ensembl rs1878258443
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available