R7C (p.Arg7Cys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R7C (p.Arg7Cys) 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 0.37 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs1292103605
- ClinGen CA389455492
- ClinVar RCV003093139
- TOPMed rs1292103605
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- MetaLR 0.32
- MetaSVM -0.72
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available