R49P (p.Arg49Pro) variant of GLA (Alpha-galactosidase A)
R49P (p.Arg49Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FABRYD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R49P (p.Arg49Pro) variant details
- p.Arg49Pro
- rs398123205
- ClinGen CA021552
- ClinVar RCV000078270
- ClinVar RCV003509487
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: 20 novel GLA mutations in 35 families. (PMID 11668641)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)