N54K (p.Asn54Lys) variant of IKBKB (O14920)
N54K (p.Asn54Lys) in IKBKB (O14920) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to IKK2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N54K (p.Asn54Lys) variant details
- p.Asn54Lys
- rs1485660870
- ClinGen CA371092549
- ClinVar RCV003744152
- gnomAD rs1485660870
- Uncertain significance
- Severe combined immunodeficiency due to IKK2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.11
- CADD 19.60
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to IKK2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available