G19R (p.Gly19Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G19R (p.Gly19Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs2138834333
- ClinGen CA389455411
- ClinVar RCV001924124
- Ensembl rs2138834333
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- MetaLR 0.36
- MetaSVM -0.71
- CADD 17.30
- PolyPhen-2 0.07
- SIFT 0.44
- 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