A88S (p.Ala88Ser) variant of CDX2 (Homeobox protein CDX-2)
A88S (p.Ala88Ser) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A88S (p.Ala88Ser) variant details
- p.Ala88Ser
- rs947168191
- ClinGen CA247255924
- ClinVar RCV004184221
- 1000Genomes rs947168191
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.04
- CADD 18.50
- PolyPhen-2 0.48
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)