T8I (p.Thr8Ile) variant of CD40LG (CD40 ligand)
T8I (p.Thr8Ile) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- 1000Genomes rs201109996
- ExAC rs201109996
- gnomAD rs201109996
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.81
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available