L17P (p.Leu17Pro) variant of CD40LG (CD40 ligand)
L17P (p.Leu17Pro) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- Ensembl rs2076094849
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -1.01
- CADD 5.49
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available