M72T (p.Met72Thr) variant of GLA (Alpha-galactosidase A)
M72T (p.Met72Thr) 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 Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M72T (p.Met72Thr) variant details
- p.Met72Thr
- rs1569304920
- ClinGen CA413934453
- ClinVar RCV003062810
- Ensembl rs1569304920
- Conflicting interpretations
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.21
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.66
- SIFT 0.10
- EVE 0.35
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (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)