M519T (p.Met519Thr) variant of GAA (Lysosomal alpha-glucosidase)
M519T (p.Met519Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M519T (p.Met519Thr) variant details
- p.Met519Thr
- rs786204720
- ClinGen CA274402
- ClinVar RCV000169538
- ClinVar RCV000726790
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.98
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation… (PMID 14695532)
- Cited in: Pompe Disease. (PMID 20301438)