C83R (p.Cys83Arg) variant of CD40 (P25942)
C83R (p.Cys83Arg) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C83R (p.Cys83Arg) variant details
- p.Cys83Arg
- rs28931586
- ClinGen CA127369
- ClinVar RCV000019325
- UniProt VAR 013628
- Pathogenic
- Hyper-IgM syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Hyper-IgM syndrome type 3)
- EBI: Pathogenic (in HIGM3)
- UniProt: Pathogenic (in HIGM3)
- Structural context available
- Cited in: Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. (PMID 11675497)
- Cited in: Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. (PMID 20702779)