R40Q (p.Arg40Gln) variant of GAA (Lysosomal alpha-glucosidase)
R40Q (p.Arg40Gln) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs374476196
- ClinGen CA8814792
- ClinVar RCV000631091
- ClinVar RCV002292572
- Conflicting interpretations
- not provided; Glycogen storage disease, type II; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.73
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II; Cardiovascular)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)