L16H (p.Leu16His) variant of FBN1 (Fibrillin-1)
L16H (p.Leu16His) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
L16H (p.Leu16His) variant details
- p.Leu16His
- rs1555407424
- ClinGen CA392453854
- ClinVar RCV000663749
- Ensembl rs1555407424
- Uncertain significance
- Missense
- AlphaMissense 0.41
- MetaLR 0.47
- MetaSVM 0.22
- SIFT 0.00
- MutPred 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)