A29P (p.Ala29Pro) variant of GLA (Alpha-galactosidase A)
A29P (p.Ala29Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- rs142449183
- ClinGen CA413937484
- ClinVar RCV003510067
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.08
- MetaLR 0.98
- MetaSVM 1.77
- PolyPhen-2 0.01
- SIFT 0.29
- EVE 0.17
- ClinVar: Uncertain significance (Fabry disease)
- 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)