N72S (p.Asn72Ser) variant of IKBKB (O14920)
N72S (p.Asn72Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- rs771764280
- ClinGen CA4731607
- ClinVar RCV001321633
- ExAC rs771764280
- Uncertain significance
- Severe combined immunodeficiency due to IKK2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.47
- CADD 26.10
- PolyPhen-2 0.89
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available