D112Y (p.Asp112Tyr) variant of CDX2 (Homeobox protein CDX-2)
D112Y (p.Asp112Tyr) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
D112Y (p.Asp112Tyr) variant details
- p.Asp112Tyr
- TOPMed rs1345464021
- gnomAD rs1345464021
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.97
- CADD 21.20
- PolyPhen-2 0.18
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available