S32I (p.Ser32Ile) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S32I (p.Ser32Ile) 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 0.77 / 1. The record also includes published literature and structural context.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- rs28933100
- ClinGen CA123691
- ClinVar RCV000015040
- UniProt VAR 034871
- Pathogenic
- 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 (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Pathogenic (in EDAID2)
- UniProt: Pathogenic (in EDAID2)
- Structural context available
- Cited in: A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell… (PMID 14523047)
- Cited in: The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. (PMID 15337789)