P40R (p.Pro40Arg) variant of GLA (Alpha-galactosidase A)
P40R (p.Pro40Arg) 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 0.93 / 1. The record also includes published literature and structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- rs398123199
- ClinGen CA021455
- ClinVar RCV000078264
- ClinVar RCV003997194
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.84
- MetaLR 1.00
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)