E3K (p.Glu3Lys) variant of CD40LG (CD40 ligand)
E3K (p.Glu3Lys) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs1350282799
- ClinGen CA414751426
- NCI-TCGA Cosmic COSV6569
- cosmic curated COSV65699
- Uncertain significance
- Hyper-IgM syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.37
- MetaLR 0.38
- MetaSVM 0.03
- CADD 25.20
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)