H116N (p.His116Asn) variant of CDX2 (Homeobox protein CDX-2)
H116N (p.His116Asn) 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 and structural context.
H116N (p.His116Asn) variant details
- p.His116Asn
- Ensembl rs942386047
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.04
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available