Q57P (p.Gln57Pro) variant of GLA (Alpha-galactosidase A)
Q57P (p.Gln57Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
Q57P (p.Gln57Pro) variant details
- p.Gln57Pro
- rs869312260
- ClinGen CA413936796
- ClinVar RCV001563580
- Ensembl rs869312260
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.06
- MetaLR 0.93
- MetaSVM 1.38
- PolyPhen-2 0.02
- SIFT 0.39
- MutPred 0.34
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)