E11* (p.Glu11Ter) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
E11* (p.Glu11Ter) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- rs368038185
- NCI-TCGA Cosmic COSV6579
- cosmic curated COSV65795
- ClinGen CA408503354
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.90
- MetaLR 0.85
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance