H116R (p.His116Arg) variant of CDX2 (Homeobox protein CDX-2)
H116R (p.His116Arg) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H116R (p.His116Arg) variant details
- p.His116Arg
- ExAC rs775459380
- TOPMed rs775459380
- gnomAD rs775459380
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.04
- CADD 17.70
- PolyPhen-2 0.29
- SIFT 0.36
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available