Q70K (p.Gln70Lys) variant of CD40LG (CD40 ligand)
Q70K (p.Gln70Lys) in CD40LG (CD40 ligand) is a missense 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.
Q70K (p.Gln70Lys) variant details
- p.Gln70Lys
- gnomAD X-136650317-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- MetaLR 0.18
- MetaSVM -0.94
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available