L192* (p.Leu192Ter) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
L192* (p.Leu192Ter) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
L192* (p.Leu192Ter) variant details
- p.Leu192Ter
- gnomAD 20-22582680-GC-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 18.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available