A60D (p.Ala60Asp) variant of GAA (Lysosomal alpha-glucosidase)
A60D (p.Ala60Asp) 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 and structural context.
A60D (p.Ala60Asp) variant details
- p.Ala60Asp
- TOPMed rs1314067837
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.30
- MetaLR 0.38
- MetaSVM -0.68
- CADD 14.70
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available