L18I (p.Leu18Ile) variant of GAA (Lysosomal alpha-glucosidase)
L18I (p.Leu18Ile) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available