L16I (p.Leu16Ile) variant of FBN1 (Fibrillin-1)
L16I (p.Leu16Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- TOPMed rs982368209
- gnomAD rs982368209
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance