A127D (p.Ala127Asp) variant of CDX2 (Homeobox protein CDX-2)
A127D (p.Ala127Asp) 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.
A127D (p.Ala127Asp) variant details
- p.Ala127Asp
- TOPMed rs910722437
- gnomAD rs910722437
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- MetaLR 0.50
- MetaSVM -0.61
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)