H60Q (p.His60Gln) variant of CD40LG (CD40 ligand)
H60Q (p.His60Gln) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H60Q (p.His60Gln) variant details
- p.His60Gln
- gnomAD X-136650289-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -1.00
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available