A129V (p.Ala129Val) variant of CDX2 (Homeobox protein CDX-2)
A129V (p.Ala129Val) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- 1000Genomes rs537506510
- ExAC rs537506510
- gnomAD rs537506510
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.05
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)