R38G (p.Arg38Gly) variant of GLA (Alpha-galactosidase A)
R38G (p.Arg38Gly) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs730880446
- ClinGen CA021410
- ClinVar RCV000157892
- ClinVar RCV001850199
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.15
- MetaLR 0.99
- MetaSVM 1.22
- PolyPhen-2 0.84
- SIFT 0.07
- EVE 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)