D51G (p.Asp51Gly) variant of CD40LG (CD40 ligand)
D51G (p.Asp51Gly) 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.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- ExAC rs771141566
- gnomAD rs771141566
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.51
- MetaLR 0.41
- MetaSVM 0.00
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available