M190K (p.Met190Lys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
M190K (p.Met190Lys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
M190K (p.Met190Lys) variant details
- p.Met190Lys
- gnomAD 20-22582655-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.93
- CADD 25.00
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Literature evidence available