G62D (p.Gly62Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G62D (p.Gly62Asp) 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 0.19 / 1. The record also includes population frequency data and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- rs1698098775
- ClinGen CA389454997
- ClinVar RCV003629306
- TOPMed rs1698098775
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.08
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.66
- 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 1.8e-06)
- Structural context available