C8Y (p.Cys8Tyr) variant of GAA (Lysosomal alpha-glucosidase)
C8Y (p.Cys8Tyr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- ExAC rs746437229
- gnomAD rs746437229
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.50
- CADD 15.50
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available