L21F (p.Leu21Phe) variant of GLA (Alpha-galactosidase A)
L21F (p.Leu21Phe) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs782164084
- ClinGen CA031556
- ClinVar RCV001789803
- ExAC rs782164084
- Conflicting interpretations
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.25
- MetaLR 0.99
- MetaSVM 1.97
- CADD 12.10
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease)
- EBI: Likely benign (in FABRYD)
- UniProt: Likely benign (in FABRYD)
- Most common in the East Asian population (allele frequency 3.3e-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)