L17V (p.Leu17Val) variant of CD40LG (CD40 ligand)
L17V (p.Leu17Val) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs1359082888
- ClinGen CA414751583
- ClinVar RCV001324502
- TOPMed rs1359082888
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.92
- CADD 1.82
- PolyPhen-2 0.02
- SIFT 0.88
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)