H114Q (p.His114Gln) variant of CDX2 (Homeobox protein CDX-2)
H114Q (p.His114Gln) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data and structural context.
H114Q (p.His114Gln) variant details
- p.His114Gln
- rs145287912
- ClinGen CA6927968
- ClinVar RCV004431101
- ESP rs145287912
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.03
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available