Q2H (p.Gln2His) variant of GLA (Alpha-galactosidase A)
Q2H (p.Gln2His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- rs782748047
- ClinGen CA413937924
- ClinVar RCV003858544
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- MetaLR 0.98
- MetaSVM 1.85
- CADD 11.20
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)