D112N (p.Asp112Asn) variant of CDX2 (Homeobox protein CDX-2)
D112N (p.Asp112Asn) 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 0.30 / 1. The record also includes population frequency data.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- rs1345464021
- ClinGen CA387640428
- ClinVar RCV004159109
- TOPMed rs1345464021
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -0.95
- CADD 21.80
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)