M519V (p.Met519Val) variant of GAA (Lysosomal alpha-glucosidase)
M519V (p.Met519Val) 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 not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M519V (p.Met519Val) variant details
- p.Met519Val
- rs1598581919
- ClinGen CA401367186
- ClinVar RCV001379276
- ClinVar RCV002223308
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.73
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Structural context available
- Cited in: Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). (PMID 7866409)
- Cited in: Pompe Disease. (PMID 20301438)