R600P (p.Arg600Pro) variant of GAA (Lysosomal alpha-glucosidase)
R600P (p.Arg600Pro) 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 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 and structural context.
R600P (p.Arg600Pro) variant details
- p.Arg600Pro
- ESP rs377544304
- ExAC rs377544304
- TOPMed rs377544304
- gnomAD rs377544304
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 29.60
- ClinVar: Conflicting classifications of pathogenicity (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