S78T (p.Ser78Thr) variant of CD40LG (CD40 ligand)
S78T (p.Ser78Thr) in CD40LG (CD40 ligand) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
S78T (p.Ser78Thr) variant details
- p.Ser78Thr
- 1000Genomes rs200672738
- ExAC rs200672738
- TOPMed rs200672738
- gnomAD rs200672738
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.96
- CADD 4.02
- PolyPhen-2 0.01
- SIFT 0.28
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GBR population (allele frequency 0.0078)
- Structural context available