A50E (p.Ala50Glu) variant of CDX2 (Homeobox protein CDX-2)
A50E (p.Ala50Glu) in CDX2 (Homeobox protein CDX-2) 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 0.50 / 1. The record also includes population frequency data.
A50E (p.Ala50Glu) variant details
- p.Ala50Glu
- NCI-TCGA Cosmic COSV6682
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.43
- MetaLR 0.44
- MetaSVM -0.50
- CADD 17.80
- PolyPhen-2 0.25
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available