R17H (p.Arg17His) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R17H (p.Arg17His) 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 0.50 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs1347828578
- ClinGen CA389455423
- ClinVar RCV002741492
- gnomAD rs1347828578
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.46
- CADD 22.70
- PolyPhen-2 0.29
- SIFT 0.05
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available