L16R (p.Leu16Arg) variant of FBN1 (Fibrillin-1)
L16R (p.Leu16Arg) 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.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- rs1555407424
- ClinGen CA392453850
- ClinVar RCV000588741
- 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