R702C (p.Arg702Cys) variant of GAA (Lysosomal alpha-glucosidase)
R702C (p.Arg702Cys) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R702C (p.Arg702Cys) variant details
- p.Arg702Cys
- rs786204645
- ClinGen CA274304
- cosmic curated COSV10964
- ClinVar RCV000169431
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing… (PMID 14972326)
- Cited in: Pompe Disease. (PMID 20301438)