V19M (p.Val19Met) variant of GAA (Lysosomal alpha-glucosidase)
V19M (p.Val19Met) 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 Cardiovascular phenotype; 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.
V19M (p.Val19Met) variant details
- p.Val19Met
- rs200343198
- ClinGen CA8814774
- ClinVar RCV000813668
- ClinVar RCV002345852
- Uncertain significance
- Cardiovascular phenotype; not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.38
- MetaLR 0.36
- MetaSVM -0.31
- CADD 0.74
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Glycogen storage disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)