L26F (p.Leu26Phe) variant of GAA (Lysosomal alpha-glucosidase)
L26F (p.Leu26Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- rs149761650
- ClinGen CA8814783
- ClinVar RCV000728232
- ClinVar RCV001065556
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.24
- MetaLR 0.40
- MetaSVM -0.72
- CADD 4.60
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- 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)