G28V (p.Gly28Val) variant of GAA (Lysosomal alpha-glucosidase)
G28V (p.Gly28Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- rs886042598
- ClinGen CA10604460
- ClinVar RCV000304860
- TOPMed rs886042598
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.51
- MetaLR 0.43
- MetaSVM -0.48
- PolyPhen-2 0.94
- SIFT 0.06
- MutPred 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available