L16V (p.Leu16Val) variant of FBN1 (Fibrillin-1)
L16V (p.Leu16Val) 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.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs982368209
- ClinGen CA392453861
- ClinVar RCV000584909
- TOPMed rs982368209
- Uncertain significance
- Missense
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.32
- SIFT 0.07
- MutPred 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance