A46E (p.Ala46Glu) variant of CDX2 (Homeobox protein CDX-2)
A46E (p.Ala46Glu) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A46E (p.Ala46Glu) variant details
- p.Ala46Glu
- rs747931887
- ClinGen CA6927987
- ClinVar RCV004311660
- ExAC rs747931887
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00045)