T68M (p.Thr68Met) variant of CD40LG (CD40 ligand)
T68M (p.Thr68Met) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T68M (p.Thr68Met) variant details
- p.Thr68Met
- rs2148551094
- ClinGen CA414753119
- ClinVar RCV001890078
- Ensembl rs2148551094
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.98
- CADD 9.17
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)