A47V (p.Ala47Val) variant of CDX2 (Homeobox protein CDX-2)
A47V (p.Ala47Val) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- TOPMed rs1869489397
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.01
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the 1KG:CEU population (allele frequency 0.0042)