I83V (p.Ile83Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
I83V (p.Ile83Val) 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 0.62 / 1. The record also includes population frequency data and structural context.
I83V (p.Ile83Val) variant details
- p.Ile83Val
- rs1165420329
- ClinGen CA389454572
- ClinVar RCV001299660
- gnomAD rs1165420329
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.52
- MetaLR 0.78
- MetaSVM 0.73
- CADD 28.00
- PolyPhen-2 0.87
- SIFT 0.02
- 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 4.5e-06)
- Structural context available