M290I (p.Met290Ile) variant of GLA (Alpha-galactosidase A)
M290I (p.Met290Ile) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M290I (p.Met290Ile) variant details
- p.Met290Ile
- rs869312438
- ClinGen CA352736
- ClinVar RCV001205029
- ClinVar RCV001781622
- Conflicting interpretations
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fabry disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-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)