H117Q (p.His117Gln) variant of CDX2 (Homeobox protein CDX-2)
H117Q (p.His117Gln) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H117Q (p.His117Gln) variant details
- p.His117Gln
- ESP rs376360900
- ExAC rs376360900
- TOPMed rs376360900
- gnomAD rs376360900
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.01
- CADD 8.30
- PolyPhen-2 0.15
- SIFT 0.20
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available