S32R (p.Ser32Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S32R (p.Ser32Arg) 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 0.75 / 1. The record also includes published literature and structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- rs1566591082
- ClinGen CA389455321
- ClinVar RCV000721151
- Ensembl rs1566591082
- Pathogenic
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.37
- ClinVar: Pathogenic (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Pathogenic (in EDAID2)
- UniProt: Pathogenic (in EDAID2)
- Structural context available
- Cited in: IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. (PMID 29948576)