A52V (p.Ala52Val) variant of CDX2 (Homeobox protein CDX-2)
A52V (p.Ala52Val) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD rs1184352216
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.69
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available