L21F (p.Leu21Phe) variant of GAA (Lysosomal alpha-glucosidase)
L21F (p.Leu21Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- gnomAD 17-80104649-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.26
- MetaLR 0.57
- MetaSVM -0.33
- CADD 20.20
- PolyPhen-2 0.92
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available