D18N (p.Asp18Asn) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D18N (p.Asp18Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs746636446
- ClinGen CA7155603
- cosmic curated COSV10586
- ClinVar RCV001044340
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.39
- MetaLR 0.66
- MetaSVM 0.26
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.21
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 8.2e-05)
- Structural context available