P71L (p.Pro71Leu) variant of IKBKB (O14920)
P71L (p.Pro71Leu) 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 record also includes structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- rs2487292229
- ClinGen CA371092921
- ClinVar RCV003743321
- Uncertain significance
- Severe combined immunodeficiency due to IKK2 deficiency
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to IKK2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available