L574F (p.Leu574Phe) variant of GAA (Lysosomal alpha-glucosidase)
L574F (p.Leu574Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L574F (p.Leu574Phe) variant details
- p.Leu574Phe
- rs1334888803
- ClinGen CA401369071
- ClinVar RCV002399054
- ClinVar RCV006470979
- Conflicting interpretations
- Cardiovascular phenotype; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.70
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)