R301Q (p.Arg301Gln) variant of GLA (Alpha-galactosidase A)
R301Q (p.Arg301Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R301Q (p.Arg301Gln) variant details
- p.Arg301Gln
- rs104894828
- ClinGen CA022189
- ClinVar RCV000011461
- ClinVar RCV000011462
- Pathogenic
- Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.95
- AlphaMissense 0.47
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Primary familial hypertr)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of… (PMID 10208848)
- Cited in: Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. (PMID 10838196)