M70V (p.Met70Val) variant of GLA (Alpha-galactosidase A)
M70V (p.Met70Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- rs1555986330
- ClinGen CA413934581
- ClinVar RCV001525958
- ClinVar RCV003130534
- Uncertain significance
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.52
- MetaLR 0.98
- MetaSVM 1.40
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Fabry disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-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)