N205K (p.Asn205Lys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
N205K (p.Asn205Lys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
N205K (p.Asn205Lys) variant details
- p.Asn205Lys
- gnomAD 20-22582627-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.74
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available