M1T (p.Met1Thr) variant of GAA (Lysosomal alpha-glucosidase)
M1T (p.Met1Thr) 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 0.47 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2039024047
- ClinGen CA401359804
- ClinVar RCV001265227
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- MetaLR 0.53
- MetaSVM 0.01
- PolyPhen-2 0.28
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
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