G483V (p.Gly483Val) variant of GAA (Lysosomal alpha-glucosidase)
G483V (p.Gly483Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G483V (p.Gly483Val) variant details
- p.Gly483Val
- rs2039213206
- ClinGen CA401366807
- ClinVar RCV001123714
- gnomAD rs2039213206
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.82
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Pompe Disease. (PMID 20301438)