A49G (p.Ala49Gly) variant of CDX2 (Homeobox protein CDX-2)
A49G (p.Ala49Gly) in CDX2 (Homeobox protein CDX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- TOPMed rs1164040208
- gnomAD rs1164040208
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.09
- CADD 21.80
- PolyPhen-2 0.21
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 0.0019)