G257D (p.Gly257Asp) variant of CD40LG (CD40 ligand)
G257D (p.Gly257Asp) 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 population frequency data, published literature, and structural context.
G257D (p.Gly257Asp) variant details
- p.Gly257Asp
- rs1477466218
- ClinGen CA414757157
- ClinVar RCV001237589
- UniProt VAR 017940
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.87
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)
- Cited in: Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. (PMID 26545377)