M36T (p.Met36Thr) variant of CD40LG (CD40 ligand)
M36T (p.Met36Thr) 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 0.41 / 1. The record also includes published literature and structural context.
M36T (p.Met36Thr) variant details
- p.Met36Thr
- rs104894774
- ClinGen CA414751908
- ClinVar RCV002025811
- Ensembl rs104894774
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.93
- MetaLR 0.22
- MetaSVM -0.46
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.40
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)