Q204K (p.Gln204Lys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
Q204K (p.Gln204Lys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
Q204K (p.Gln204Lys) variant details
- p.Gln204Lys
- gnomAD 20-22582623-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.67
- CADD 24.90
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available