Y5H (p.Tyr5His) variant of CD40LG (CD40 ligand)
Y5H (p.Tyr5His) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y5H (p.Tyr5His) variant details
- p.Tyr5His
- gnomAD X-136648261-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.40
- MetaLR 0.32
- MetaSVM -0.37
- CADD 21.00
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available