A68G (p.Ala68Gly) variant of CDX2 (Homeobox protein CDX-2)
A68G (p.Ala68Gly) 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 0.36 / 1. The record also includes population frequency data.
A68G (p.Ala68Gly) variant details
- p.Ala68Gly
- TOPMed rs1351392007
- gnomAD rs1351392007
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.07
- CADD 21.80
- PolyPhen-2 0.53
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)