R227Q (p.Arg227Gln) variant of GLA (Alpha-galactosidase A)
R227Q (p.Arg227Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R227Q (p.Arg227Gln) variant details
- p.Arg227Gln
- rs104894840
- ClinGen CA021972
- ClinVar RCV000011478
- ClinVar RCV000157898
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (PMID 7504405)