Q70P (p.Gln70Pro) variant of CD40LG (CD40 ligand)
Q70P (p.Gln70Pro) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q70P (p.Gln70Pro) variant details
- p.Gln70Pro
- gnomAD X-136650318-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.44
- MetaLR 0.37
- MetaSVM -0.52
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available