K102E (p.Lys102Glu) variant of CD40LG (CD40 ligand)
K102E (p.Lys102Glu) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K102E (p.Lys102Glu) variant details
- p.Lys102Glu
- gnomAD X-136654388-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -1.01
- CADD 6.20
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available