G18R (p.Gly18Arg) variant of CD28 (P10747)
G18R (p.Gly18Arg) in CD28 (P10747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 123 with HPV-related verrucosis. The record also includes variant effect predictions, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- UniProt VAR 089967
- Pathogenic
- Immunodeficiency 123 with HPV-related verrucosis
- Missense
- MetaLR 0.44
- MetaSVM 0.01
- SIFT 0.04
- ClinVar: Pathogenic (Immunodeficiency 123 with HPV-related verrucosis)
- EBI: Pathogenic (in IMD123)
- UniProt: Pathogenic (in IMD123)
- Structural context available
- Cited in: Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. (PMID 34214472)