R197L (p.Arg197Leu) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
R197L (p.Arg197Leu) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data.
R197L (p.Arg197Leu) variant details
- p.Arg197Leu
- rs372773557
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- ESP rs372773557
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available