S57I (p.Ser57Ile) variant of CDX2 (Homeobox protein CDX-2)
S57I (p.Ser57Ile) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S57I (p.Ser57Ile) variant details
- p.Ser57Ile
- TOPMed rs1869487192
- gnomAD rs1869487192
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.07
- CADD 18.50
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00019)