R202L (p.Arg202Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
R202L (p.Arg202Leu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and published literature.
R202L (p.Arg202Leu) variant details
- p.Arg202Leu
- rs372773557
- gnomAD 20-22582634-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.95
- CADD 29.60
- PolyPhen-2 0.97
- Most common in the South Asian population (allele frequency 3.5e-05)
- Literature evidence available