E8K (p.Glu8Lys) variant of FOXA1 (P55317)
E8K (p.Glu8Lys) in FOXA1 (P55317) 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 0.75 / 1. The record also includes population frequency data.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- NCI-TCGA Cosmic COSV9916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- MetaLR 0.91
- MetaSVM 0.50
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available