T254K (p.Thr254Lys) variant of CD40LG (CD40 ligand)
T254K (p.Thr254Lys) 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 0.89 / 1. The record also includes published literature and structural context.
T254K (p.Thr254Lys) variant details
- p.Thr254Lys
- rs193922136
- ClinGen CA414757091
- NCI-TCGA Cosmic COSV1010
- NCI-TCGA Cosmic COSV6569
- Likely pathogenic
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: 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)