M36R (p.Met36Arg) variant of CD40LG (CD40 ligand)
M36R (p.Met36Arg) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
M36R (p.Met36Arg) variant details
- p.Met36Arg
- rs104894774
- ClinGen CA255749
- ClinVar RCV000011912
- UniProt VAR 007513
- Pathogenic/Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.93
- MetaLR 0.22
- MetaSVM -0.46
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. (PMID 7679206)
- Cited in: Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. (PMID 9150729)