M51I (p.Met51Ile) variant of GLA (Alpha-galactosidase A)
M51I (p.Met51Ile) 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 0.72 / 1. The record also includes published literature and structural context.
M51I (p.Met51Ile) variant details
- p.Met51Ile
- rs869312255
- ClinGen CA352950
- ClinVar RCV001193644
- Ensembl rs869312255
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.32
- MetaLR 0.99
- MetaSVM 1.30
- PolyPhen-2 0.19
- SIFT 0.02
- EVE 0.51
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic
- UniProt: 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)