A27E (p.Ala27Glu) variant of CDX2 (Homeobox protein CDX-2)
A27E (p.Ala27Glu) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- ExAC rs750529483
- TOPMed rs750529483
- gnomAD rs750529483
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -1.04
- CADD 24.90
- PolyPhen-2 0.64
- SIFT 0.04
- Most common in the HGDP:MBUTI population (allele frequency 0.042)