Q204H (p.Gln204His) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
Q204H (p.Gln204His) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
Q204H (p.Gln204His) variant details
- p.Gln204His
- gnomAD 20-22582612-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Literature evidence available