D8E (p.Asp8Glu) variant of CDX2 (Homeobox protein CDX-2)
D8E (p.Asp8Glu) 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 0.35 / 1. The record also includes population frequency data.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- rs1217840490
- ClinGen CA387641746
- ClinVar RCV004325026
- TOPMed rs1217840490
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.39
- MetaSVM -0.22
- CADD 20.40
- PolyPhen-2 0.14
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available