A22V (p.Ala22Val) variant of GAA (Lysosomal alpha-glucosidase)
A22V (p.Ala22Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- ExAC rs773089240
- gnomAD rs773089240
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.79
- CADD 9.15
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available