H47H (p.His47His) variant of CD40LG (CD40 ligand)
H47H (p.His47His) in CD40LG (CD40 ligand) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- gnomAD X-136648389-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 8.84
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available