M42L (p.Met42Leu) variant of GLA (Alpha-galactosidase A)
M42L (p.Met42Leu) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- rs797044613
- ClinGen CA021494
- ClinVar RCV000235742
- ClinVar RCV000809963
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.93
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.10
- PolyPhen-2 1.00
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)