P205A (p.Pro205Ala) variant of GLA (Alpha-galactosidase A)
P205A (p.Pro205Ala) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P205A (p.Pro205Ala) variant details
- p.Pro205Ala
- rs397515870
- ClinGen CA413927258
- ClinVar RCV002293713
- ClinVar RCV003097834
- Conflicting interpretations
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- MetaLR 1.00
- MetaSVM 0.85
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- 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)