R208C (p.Arg208Cys) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
R208C (p.Arg208Cys) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R208C (p.Arg208Cys) variant details
- p.Arg208Cys
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)