M1V (p.Met1Val) variant of GAA (Lysosomal alpha-glucosidase)
M1V (p.Met1Val) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs786204467
- ClinGen CA273952
- ClinVar RCV000169114
- ClinVar RCV005632279
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- MetaLR 0.51
- MetaSVM -0.26
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)