M42T (p.Met42Thr) variant of GLA (Alpha-galactosidase A)
M42T (p.Met42Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FABRYD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M42T (p.Met42Thr) variant details
- p.Met42Thr
- rs398123201
- ClinGen CA021500
- ClinVar RCV000078266
- ClinVar RCV000723538
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.58
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)