L192Q (p.Leu192Gln) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
L192Q (p.Leu192Gln) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
L192Q (p.Leu192Gln) variant details
- p.Leu192Gln
- gnomAD 20-22582677-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 33.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available