V19L (p.Val19Leu) variant of FBN2 (Fibrillin-2)
V19L (p.Val19Leu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- TOPMed rs1357709072
- gnomAD rs1357709072
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available