C8F (p.Cys8Phe) variant of GAA (Lysosomal alpha-glucosidase)
C8F (p.Cys8Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- gnomAD 17-80104609-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.27
- MetaLR 0.43
- MetaSVM -0.45
- CADD 16.00
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available