D34E (p.Asp34Glu) variant of GAA (Lysosomal alpha-glucosidase)
D34E (p.Asp34Glu) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- gnomAD 17-80104688-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.60
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available