I53R (p.Ile53Arg) variant of CD40LG (CD40 ligand)
I53R (p.Ile53Arg) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I53R (p.Ile53Arg) variant details
- p.Ile53Arg
- gnomAD X-136650267-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- MetaLR 0.28
- MetaSVM -0.47
- CADD 26.10
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available