V48L (p.Val48Leu) variant of CD40 (P25942)
V48L (p.Val48Leu) in CD40 (P25942) is a missense 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.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- gnomAD 20-46122244-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.25
- MetaLR 0.64
- MetaSVM -0.51
- CADD 8.10
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available