H125Y (p.His125Tyr) variant of CD40LG (CD40 ligand)
H125Y (p.His125Tyr) 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 0.84 / 1. The record also includes published literature and structural context.
H125Y (p.His125Tyr) variant details
- p.His125Tyr
- rs1603321148
- ClinGen CA414754977
- ClinVar RCV000803202
- Ensembl rs1603321148
- Pathogenic/Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.69
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)