R660H (p.Arg660His) variant of GAA (Lysosomal alpha-glucosidase)
R660H (p.Arg660His) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R660H (p.Arg660His) variant details
- p.Arg660His
- rs374143224
- ClinGen CA274455
- ClinVar RCV000169600
- ClinVar RCV000256037
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.98
- CADD 32.00
- 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 African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: New GAA mutations in Japanese patients with GSDII (Pompe disease). (PMID 14643388)
- Cited in: Pompe Disease. (PMID 20301438)