H118Q (p.His118Gln) variant of CDX2 (Homeobox protein CDX-2)
H118Q (p.His118Gln) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data.
H118Q (p.His118Gln) variant details
- p.His118Gln
- ExAC rs747093596
- TOPMed rs747093596
- gnomAD rs747093596
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.02
- CADD 16.00
- PolyPhen-2 0.56
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)