P35A (p.Pro35Ala) variant of CDX2 (Homeobox protein CDX-2)
P35A (p.Pro35Ala) 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 0.40 / 1. The record also includes population frequency data.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- 1000Genomes rs148740542
- ESP rs148740542
- ExAC rs148740542
- TOPMed rs148740542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.73
- CADD 24.00
- PolyPhen-2 0.47
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KARITIANA population (allele frequency 1)