L6P (p.Leu6Pro) variant of CD40 (P25942)
L6P (p.Leu6Pro) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 20-46118360-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available