S32G (p.Ser32Gly) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S32G (p.Ser32Gly) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- rs1566591086
- ClinGen CA389455326
- ClinVar RCV000721150
- Ensembl rs1566591086
- Pathogenic
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.66
- MetaLR 0.79
- MetaSVM 0.72
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Pathogenic (in EDAID2)
- UniProt: Pathogenic (in EDAID2)
- Population evidence available
- Structural context available
- Cited in: Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. (PMID 28417298)