L59I (p.Leu59Ile) variant of CD40LG (CD40 ligand)
L59I (p.Leu59Ile) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
L59I (p.Leu59Ile) variant details
- p.Leu59Ile
- cosmic curated COSV10103
- 1000Genomes rs749829408
- ExAC rs749829408
- gnomAD rs749829408
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.27
- MetaLR 0.37
- MetaSVM -0.41
- CADD 24.30
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.007)
- Structural context available