Y5C (p.Tyr5Cys) variant of CD40LG (CD40 ligand)
Y5C (p.Tyr5Cys) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- ExAC rs750090324
- gnomAD rs750090324
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.52
- MetaLR 0.48
- MetaSVM 0.02
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available