P8L (p.Pro8Leu) variant of GALT (P07902)
P8L (p.Pro8Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Galactosemia. The record also includes structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- Ensembl rs1821110462
- Uncertain significance
- Galactosemia
- Missense
- ClinVar: Uncertain significance (Galactosemia)
- UniProt: Uncertain significance
- Structural context available