A14T (p.Ala14Thr) variant of CD40LG (CD40 ligand)
A14T (p.Ala14Thr) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- cosmic curated COSV65698
- Ensembl rs2076094811
- Missense
- Variant Prioritization Score for Impact Estimate 0.0862
- REVEL 0.05
- MetaLR 0.16
- MetaSVM -1.01
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available