C37G (p.Cys37Gly) variant of CD40 (P25942)
C37G (p.Cys37Gly) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HIGM3. The record also includes variant effect predictions, published literature, and structural context.
C37G (p.Cys37Gly) variant details
- p.Cys37Gly
- UniProt VAR 077569
- Pathogenic
- in HIGM3
- Missense
- MetaLR 1.00
- MetaSVM 0.86
- SIFT 0.00
- EBI: Pathogenic (in HIGM3)
- UniProt: Pathogenic (in HIGM3)
- Structural context available
- Cited in: Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. (PMID 26545377)
- Cited in: Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. (PMID 11675497)