G15D (p.Gly15Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G15D (p.Gly15Asp) 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 0.53 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs768610997
- ClinGen CA7155604
- ClinVar RCV002592119
- ExAC rs768610997
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.57
- MetaLR 0.56
- MetaSVM -0.07
- CADD 18.00
- PolyPhen-2 0.11
- SIFT 0.33
- 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 2.4e-05)
- Structural context available