H20R (p.His20Arg) variant of CDX2 (Homeobox protein CDX-2)
H20R (p.His20Arg) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
H20R (p.His20Arg) variant details
- p.His20Arg
- ExAC rs777630450
- TOPMed rs777630450
- gnomAD rs777630450
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the 1KG:PJL population (allele frequency 0.0052)