P63L (p.Pro63Leu) variant of CDX2 (Homeobox protein CDX-2)
P63L (p.Pro63Leu) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- ExAC rs747093473
- TOPMed rs747093473
- gnomAD rs747093473
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.79
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00041)