N90K (p.Asn90Lys) variant of CDX2 (Homeobox protein CDX-2)
N90K (p.Asn90Lys) 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 0.17 / 1. The record also includes population frequency data.
N90K (p.Asn90Lys) variant details
- p.Asn90Lys
- TOPMed rs1368580705
- gnomAD rs1368580705
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.05
- CADD 8.90
- PolyPhen-2 0.44
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)