G257V (p.Gly257Val) variant of CD40LG (CD40 ligand)
G257V (p.Gly257Val) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G257V (p.Gly257Val) variant details
- p.Gly257Val
- rs1477466218
- ClinGen CA414757152
- ClinVar RCV003228759
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Likely pathogenic (in HIGM1)
- UniProt: Likely pathogenic (in HIGM1)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)