V203I (p.Val203Ile) variant of IKBKB (O14920)
V203I (p.Val203Ile) in IKBKB (O14920) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe combined immunodeficiency due to IKK2 deficiency; Immunodeficiency 15a. The record also includes published literature and structural context.
V203I (p.Val203Ile) variant details
- p.Val203Ile
- rs1563340753
- ClinGen CA371080512
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60596
- Pathogenic
- Severe combined immunodeficiency due to IKK2 deficiency; Immunodeficiency 15a
- Missense
- ClinVar: Pathogenic (Severe combined immunodeficiency due to IKK2 deficiency; Immunod)
- EBI: Pathogenic (in IMD15A)
- UniProt: Pathogenic (in IMD15A)
- Structural context available
- Cited in: Gain-of-function IKBKB mutation causes human combined immune deficiency. (PMID 30337470)