P130A (p.Pro130Ala) variant of CDX2 (Homeobox protein CDX-2)
P130A (p.Pro130Ala) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data.
P130A (p.Pro130Ala) variant details
- p.Pro130Ala
- TOPMed rs1379964377
- gnomAD rs1379964377
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.04
- CADD 17.80
- PolyPhen-2 0.08
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.071)