V18V (p.Val18Val) variant of CD40 (P25942)
V18V (p.Val18Val) in CD40 (P25942) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V18V (p.Val18Val) variant details
- p.Val18Val
- rs771363187
- gnomAD 20-46121822-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available