E55D (p.Glu55Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E55D (p.Glu55Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- rs2052767503
- ClinGen CA389455087
- ClinVar RCV003874383
- TOPMed rs2052767503
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.08
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available