A22T (p.Ala22Thr) variant of GAA (Lysosomal alpha-glucosidase)
A22T (p.Ala22Thr) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD rs1192534237
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.80
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available