P123L (p.Pro123Leu) variant of CDX2 (Homeobox protein CDX-2)
P123L (p.Pro123Leu) 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 0.48 / 1. The record also includes population frequency data.
P123L (p.Pro123Leu) variant details
- p.Pro123Leu
- ExAC rs758562806
- TOPMed rs758562806
- gnomAD rs758562806
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.32
- MetaLR 0.56
- MetaSVM 0.07
- CADD 22.90
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00047)