Q36R (p.Gln36Arg) variant of CDX2 (Homeobox protein CDX-2)
Q36R (p.Gln36Arg) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- rs1213138909
- ClinGen CA387641300
- ClinVar RCV004264559
- TOPMed rs1213138909
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.27
- MetaLR 0.23
- MetaSVM -0.75
- CADD 28.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.22)