R53H (p.Arg53His) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R53H (p.Arg53His) 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 0.39 / 1. The record also includes population frequency data and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs761810172
- ClinGen CA7155588
- ClinVar RCV003628663
- ExAC rs761810172
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.22
- MetaLR 0.30
- MetaSVM -0.43
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.09
- 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 1.2e-05)
- Structural context available