T105K (p.Thr105Lys) variant of CD40LG (CD40 ligand)
T105K (p.Thr105Lys) 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 0.32 / 1. The record also includes published literature and structural context.
T105K (p.Thr105Lys) variant details
- p.Thr105Lys
- rs376582437
- ClinGen CA414754678
- ClinVar RCV003512685
- ESP rs376582437
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.14
- EVE 0.27
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)