H5L (p.His5Leu) variant of GAA (Lysosomal alpha-glucosidase)
H5L (p.His5Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The record also includes structural context.
H5L (p.His5Leu) variant details
- p.His5Leu
- cosmic curated COSV10512
- Missense
- Structural context available