E40K (p.Glu40Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E40K (p.Glu40Lys) 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 0.51 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs2138834181
- ClinGen CA389455273
- ClinVar RCV002299978
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.27
- MetaLR 0.66
- MetaSVM 0.46
- CADD 26.50
- PolyPhen-2 0.68
- SIFT 0.07
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available