A60T (p.Ala60Thr) variant of GAA (Lysosomal alpha-glucosidase)
A60T (p.Ala60Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- gnomAD rs1354152347
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- MetaLR 0.36
- MetaSVM -0.73
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available