A129S (p.Ala129Ser) variant of CDX2 (Homeobox protein CDX-2)
A129S (p.Ala129Ser) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A129S (p.Ala129Ser) variant details
- p.Ala129Ser
- gnomAD rs1293678984
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.04
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 0.00045)