T105M (p.Thr105Met) variant of CD40LG (CD40 ligand)
T105M (p.Thr105Met) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hyper-IgM syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- rs376582437
- ClinGen CA10528112
- ClinVar RCV001514818
- ESP rs376582437
- Benign
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.10
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.02
- CADD 0.48
- PolyPhen-2 0.01
- ClinVar: Benign (Hyper-IgM syndrome type 1)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)