R19S (p.Arg19Ser) variant of CDX2 (Homeobox protein CDX-2)
R19S (p.Arg19Ser) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- gnomAD rs1344424042
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.58
- CADD 27.10
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)