R19H (p.Arg19His) variant of CDX2 (Homeobox protein CDX-2)
R19H (p.Arg19His) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R19H (p.Arg19His) variant details
- p.Arg19His
- gnomAD rs1278782770
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.42
- MetaLR 0.31
- MetaSVM -0.37
- CADD 28.90
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)