L299P (p.Leu299Pro) variant of GAA (Lysosomal alpha-glucosidase)
L299P (p.Leu299Pro) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L299P (p.Leu299Pro) variant details
- p.Leu299Pro
- rs121907940
- ClinGen CA273686
- ClinVar RCV000156941
- ClinVar RCV001310382
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.95
- AlphaMissense 0.89
- MetaLR 0.91
- MetaSVM 1.07
- CADD 31.00
- PolyPhen-2 1.00
- 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 5.4e-06)
- 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)