E86K (p.Glu86Lys) variant of CD40LG (CD40 ligand)
E86K (p.Glu86Lys) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- rs1556136676
- ClinGen CA414753468
- NCI-TCGA Cosmic COSV6569
- cosmic curated COSV65698
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.47
- EVE 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available