L35V (p.Leu35Val) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
L35V (p.Leu35Val) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FOXA2-related disorder.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- rs2514814471
- ClinGen CA408503176
- ClinVar RCV003406133
- Uncertain significance
- FOXA2-related disorder
- Missense
- ClinVar: Uncertain significance (FOXA2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance