A58E (p.Ala58Glu) variant of CDX2 (Homeobox protein CDX-2)
A58E (p.Ala58Glu) 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.
A58E (p.Ala58Glu) variant details
- p.Ala58Glu
- TOPMed rs1453653936
- gnomAD rs1453653936
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -0.87
- CADD 23.30
- PolyPhen-2 0.76
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 0.00047)