S36Y (p.Ser36Tyr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S36Y (p.Ser36Tyr) 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 0.76 / 1. The record also includes published literature and structural context.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- rs1566591076
- ClinGen CA389455297
- ClinVar RCV000721149
- Ensembl rs1566591076
- Pathogenic
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Pathogenic (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr… (PMID 23864385)
- Cited in: Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. (PMID 26888281)