A104V (p.Ala104Val) variant of CDX2 (Homeobox protein CDX-2)
A104V (p.Ala104Val) 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 0.28 / 1. The record also includes population frequency data.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- NCI-TCGA Cosmic COSV6682
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.06
- CADD 19.70
- PolyPhen-2 0.34
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:XIBO population (allele frequency 0.056)