L54I (p.Leu54Ile) variant of GLA (Alpha-galactosidase A)
L54I (p.Leu54Ile) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L54I (p.Leu54Ile) variant details
- p.Leu54Ile
- NCI-TCGA Cosmic COSV5450
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available