H84Q (p.His84Gln) variant of NFKBIA (NF-kappa-B inhibitor alpha)
H84Q (p.His84Gln) 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 record also includes structural context.
H84Q (p.His84Gln) variant details
- p.His84Gln
- rs2502185825
- ClinGen CA389454540
- ClinVar RCV003629538
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available