M37K (p.Met37Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
M37K (p.Met37Lys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
M37K (p.Met37Lys) variant details
- p.Met37Lys
- rs1566591073
- ClinGen CA389455292
- cosmic curated COSV53755
- ClinVar RCV000721148
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.84
- MetaLR 0.65
- MetaSVM 0.30
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. (PMID 23708964)