D112H (p.Asp112His) variant of CDX2 (Homeobox protein CDX-2)
D112H (p.Asp112His) 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 0.36 / 1. The record also includes population frequency data.
D112H (p.Asp112His) variant details
- p.Asp112His
- TOPMed rs1345464021
- gnomAD rs1345464021
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.86
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)