E6K (p.Glu6Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E6K (p.Glu6Lys) 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 not specified; Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs923187160
- ClinGen CA258863095
- cosmic curated COSV53753
- ClinVar RCV000507514
- Uncertain significance
- not specified; Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.83
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not specified; Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available