A50V (p.Ala50Val) variant of CDX2 (Homeobox protein CDX-2)
A50V (p.Ala50Val) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- Ensembl rs1593186083
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- MetaLR 0.46
- MetaSVM -0.48
- CADD 21.30
- PolyPhen-2 0.48
- SIFT 0.45
- Most common in the HGDP:NAXI population (allele frequency 0.071)