A53E (p.Ala53Glu) variant of CDX2 (Homeobox protein CDX-2)
A53E (p.Ala53Glu) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A53E (p.Ala53Glu) variant details
- p.Ala53Glu
- gnomAD rs1472976227
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.23
- MetaLR 0.46
- MetaSVM -0.43
- CADD 22.90
- PolyPhen-2 0.64
- SIFT 0.07
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available