K107E (p.Lys107Glu) variant of CD40LG (CD40 ligand)
K107E (p.Lys107Glu) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K107E (p.Lys107Glu) variant details
- p.Lys107Glu
- cosmic curated COSV65698
- TOPMed rs1257414276
- gnomAD rs1257414276
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.90
- CADD 9.24
- PolyPhen-2 0.01
- SIFT 0.86
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available