G41D (p.Gly41Asp) variant of CDX2 (Homeobox protein CDX-2)
G41D (p.Gly41Asp) 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 0.38 / 1. The record also includes population frequency data.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs1339366385
- ClinGen CA387641223
- ClinVar RCV004144980
- TOPMed rs1339366385
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.87
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.015)