p.Thr75 His76insGlnArg variant of CD40 (P25942)
p.Thr75 His76insGlnArg in CD40 (P25942) 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, published literature, and structural context.
p.Thr75 His76insGlnArg variant details
- gnomAD 20-46122326-C-CAC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.0912
- CADD 1.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available