A103S (p.Ala103Ser) variant of CDX2 (Homeobox protein CDX-2)
A103S (p.Ala103Ser) 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 0.17 / 1. The record also includes population frequency data.
A103S (p.Ala103Ser) variant details
- p.Ala103Ser
- rs1190093290
- ClinGen CA387640531
- ClinVar RCV004431100
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.03
- CADD 11.80
- PolyPhen-2 0.28
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available