R702L (p.Arg702Leu) variant of GAA (Lysosomal alpha-glucosidase)
R702L (p.Arg702Leu) 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.
R702L (p.Arg702Leu) variant details
- p.Arg702Leu
- rs398123172
- ClinGen CA220396
- ClinVar RCV000174831
- ClinVar RCV000792061
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- CADD 28.00
- 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 2.4e-05)
- Structural context available
- Cited in: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the… (PMID 22644586)
- Cited in: Pompe Disease. (PMID 20301438)