R672W (p.Arg672Trp) variant of GAA (Lysosomal alpha-glucosidase)
R672W (p.Arg672Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R672W (p.Arg672Trp) variant details
- p.Arg672Trp
- rs757111744
- ClinGen CA273939
- cosmic curated COSV56412
- ClinVar RCV000169099
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID 16917947)
- Cited in: Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two… (PMID 9535769)