D34G (p.Asp34Gly) variant of GAA (Lysosomal alpha-glucosidase)
D34G (p.Asp34Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- gnomAD 17-80104687-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.32
- MetaLR 0.43
- MetaSVM -0.58
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available