E51K (p.Glu51Lys) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E51K (p.Glu51Lys) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs774277544
- ClinGen CA7155590
- cosmic curated COSV10876
- ClinVar RCV002913818
- Benign
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.09
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Benign (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available