S32N (p.Ser32Asn) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S32N (p.Ser32Asn) 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 not provided; Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs28933100
- ClinGen CA389455323
- cosmic curated COSV53752
- ClinVar RCV000721152
- Pathogenic
- not provided; Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.34
- ClinVar: Pathogenic (not provided; 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)