M21V (p.Met21Val) variant of CD40LG (CD40 ligand)
M21V (p.Met21Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- gnomAD X-136648309-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.49
- MetaLR 0.39
- MetaSVM -0.58
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available