M1L (p.Met1Leu) variant of GAA (Lysosomal alpha-glucosidase)
M1L (p.Met1Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs786204467
- ClinGen CA401359799
- ClinVar RCV001265217
- Likely 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: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
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