G11V (p.Gly11Val) variant of GLA (Alpha-galactosidase A)
G11V (p.Gly11Val) 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 not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- rs782498765
- ClinGen CA413937813
- ClinVar RCV001183430
- ClinVar RCV006279414
- Uncertain significance
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.20
- MetaLR 0.98
- MetaSVM 2.18
- CADD 6.37
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- 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)