R375H (p.Arg375His) variant of GAA (Lysosomal alpha-glucosidase)
R375H (p.Arg375His) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R375H (p.Arg375His) variant details
- p.Arg375His
- rs142752477
- ClinGen CA8815177
- cosmic curated COSV10440
- ClinVar RCV000694178
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)