K102R (p.Lys102Arg) variant of CD40LG (CD40 ligand)
K102R (p.Lys102Arg) 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.
K102R (p.Lys102Arg) variant details
- p.Lys102Arg
- gnomAD X-136654389-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.92
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available