R197Q (p.Arg197Gln) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
R197Q (p.Arg197Gln) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data.
R197Q (p.Arg197Gln) variant details
- p.Arg197Gln
- rs372773557
- ClinGen CA9786990
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV65796
- Uncertain significance
- not provided
- 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
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available