P35S (p.Pro35Ser) variant of CDX2 (Homeobox protein CDX-2)
P35S (p.Pro35Ser) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- 1000Genomes rs148740542
- ESP rs148740542
- ExAC rs148740542
- TOPMed rs148740542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.24
- MetaLR 0.32
- MetaSVM -0.36
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available