Y172H (p.Tyr172His) variant of CD40LG (CD40 ligand)
Y172H (p.Tyr172His) 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 0.91 / 1. The record also includes published literature and structural context.
Y172H (p.Tyr172His) variant details
- p.Tyr172His
- rs2076127133
- ClinGen CA414755781
- ClinVar RCV001060218
- Ensembl rs2076127133
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.81
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)