H116P (p.His116Pro) variant of CDX2 (Homeobox protein CDX-2)
H116P (p.His116Pro) in CDX2 (Homeobox protein CDX-2) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
H116P (p.His116Pro) variant details
- p.His116Pro
- ExAC rs775459380
- TOPMed rs775459380
- gnomAD rs775459380
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- MetaLR 0.06
- MetaSVM -1.04
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available