G44V (p.Gly44Val) variant of GAA (Lysosomal alpha-glucosidase)
G44V (p.Gly44Val) 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 Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- rs550609502
- ClinGen CA8814793
- cosmic curated COSV10609
- ClinVar RCV000278138
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- MetaLR 0.40
- MetaSVM -0.68
- CADD 6.81
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00031)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)