P160L (p.Pro160Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
P160L (p.Pro160Leu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Combined pituitary hormone deficiencies, genetic form.
P160L (p.Pro160Leu) variant details
- p.Pro160Leu
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- Uncertain significance
- Combined pituitary hormone deficiencies, genetic form
- Missense
- ClinVar: Uncertain significance (Combined pituitary hormone deficiencies, genetic form)
- UniProt: Uncertain significance