P130T (p.Pro130Thr) variant of CDX2 (Homeobox protein CDX-2)
P130T (p.Pro130Thr) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
P130T (p.Pro130Thr) variant details
- p.Pro130Thr
- TOPMed rs1379964377
- gnomAD rs1379964377
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00013)