D34Y (p.Asp34Tyr) variant of GAA (Lysosomal alpha-glucosidase)
D34Y (p.Asp34Tyr) 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 and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- ExAC rs766452755
- gnomAD rs766452755
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.46
- MetaLR 0.42
- MetaSVM -0.61
- CADD 16.30
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available