E86K (p.Glu86Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E86K (p.Glu86Lys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- rs1388058525
- ClinGen CA389454522
- ClinVar RCV002023839
- gnomAD rs1388058525
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.32
- MetaLR 0.55
- MetaSVM -0.16
- CADD 27.90
- PolyPhen-2 0.57
- SIFT 0.05
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available