P40A (p.Pro40Ala) variant of GLA (Alpha-galactosidase A)
P40A (p.Pro40Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- rs104894831
- ClinGen CA413937249
- ClinVar RCV003050639
- Conflicting interpretations
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.83
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease)
- UniProt: Conflicting interpretations (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)