M187T (p.Met187Thr) variant of GLA (Alpha-galactosidase A)
M187T (p.Met187Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M187T (p.Met187Thr) variant details
- p.Met187Thr
- rs869312342
- ClinGen CA352650
- ClinVar RCV001090390
- ClinVar RCV004806209
- Pathogenic/Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.84
- AlphaMissense 0.81
- MetaLR 1.00
- MetaSVM 0.87
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- 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)