A49T (p.Ala49Thr) variant of CDX2 (Homeobox protein CDX-2)
A49T (p.Ala49Thr) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- TOPMed rs934737987
- gnomAD rs934737987
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.06
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.37
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)