N83K (p.Asn83Lys) variant of CD40LG (CD40 ligand)
N83K (p.Asn83Lys) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N83K (p.Asn83Lys) variant details
- p.Asn83Lys
- ExAC rs761769948
- gnomAD rs761769948
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.42
- MetaLR 0.42
- MetaSVM -0.18
- CADD 23.00
- PolyPhen-2 0.54
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available