G227V (p.Gly227Val) variant of CD40LG (CD40 ligand)
G227V (p.Gly227Val) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G227V (p.Gly227Val) variant details
- p.Gly227Val
- rs104894768
- ClinGen CA255745
- ClinVar RCV000011909
- UniProt VAR 007524
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.64
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. (PMID 31331973)
- Cited in: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. (PMID 7679801)