A86S (p.Ala86Ser) variant of CDX2 (Homeobox protein CDX-2)
A86S (p.Ala86Ser) 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 0.23 / 1. The record also includes population frequency data.
A86S (p.Ala86Ser) variant details
- p.Ala86Ser
- TOPMed rs1329227286
- gnomAD rs1329227286
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 10.40
- PolyPhen-2 0.12
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KARITIANA population (allele frequency 1)