L291P (p.Leu291Pro) variant of GAA (Lysosomal alpha-glucosidase)
L291P (p.Leu291Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L291P (p.Leu291Pro) variant details
- p.Leu291Pro
- rs2143849151
- ClinGen CA401363854
- ClinVar RCV001789730
- Ensembl rs2143849151
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.91
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- 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 9e-07)
- Structural context available
- Cited in: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID 20080426)