L50L (p.Leu50Leu) variant of CD40LG (CD40 ligand)
L50L (p.Leu50Leu) in CD40LG (CD40 ligand) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs1126535
- gnomAD X-136648396-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.53
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 1)
- Structural context available
- Cited in: Impact of CD40 (rs1883832) and CD40L (rs1126535) gene variants on laryngeal cancer susceptibility and their association… (PMID 39625893)
- Cited in: Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion. (PMID 39318622)