L21P (p.Leu21Pro) variant of GLA (Alpha-galactosidase A)
L21P (p.Leu21Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs869312135
- ClinGen CA353214
- ClinVar RCV000209283
- ClinVar RCV000209546
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.68
- MetaLR 0.99
- MetaSVM 1.22
- CADD 23.30
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease)
- 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: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)