Q44R (p.Gln44Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
Q44R (p.Gln44Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs2052768045
- ClinGen CA389455239
- ClinVar RCV001111175
- Ensembl rs2052768045
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.05
- MetaLR 0.21
- MetaSVM -0.86
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.50
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available