Q57R (p.Gln57Arg) variant of GLA (Alpha-galactosidase A)
Q57R (p.Gln57Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- rs869312260
- ClinGen CA352488
- ClinVar RCV001762947
- ClinVar RCV005645292
- Conflicting interpretations
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- AlphaMissense 0.06
- MetaLR 0.93
- MetaSVM 1.38
- CADD 5.29
- PolyPhen-2 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fabry disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)