M190I (p.Met190Ile) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
M190I (p.Met190Ile) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
M190I (p.Met190Ile) variant details
- p.Met190Ile
- rs200970860
- gnomAD 20-22582654-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.82
- CADD 24.20
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Literature evidence available