R672Q (p.Arg672Gln) variant of GAA (Lysosomal alpha-glucosidase)
R672Q (p.Arg672Gln) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R672Q (p.Arg672Gln) variant details
- p.Arg672Gln
- rs778418246
- ClinGen CA8815566
- ClinVar RCV000410731
- ClinVar RCV003137986
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two… (PMID 9535769)
- Cited in: Pompe Disease. (PMID 20301438)