M190T (p.Met190Thr) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
M190T (p.Met190Thr) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
M190T (p.Met190Thr) variant details
- p.Met190Thr
- gnomAD 20-22582655-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 0.64
- SIFT 0.07
- Population evidence available
- Literature evidence available