E104K (p.Glu104Lys) variant of CD40LG (CD40 ligand)
E104K (p.Glu104Lys) in CD40LG (CD40 ligand) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- rs752210787
- NCI-TCGA Cosmic COSV6569
- cosmic curated COSV65698
- ExAC rs752210787
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.99
- CADD 2.91
- PolyPhen-2 0.00
- SIFT 0.85
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available