P43P (p.Pro43Pro) variant of CD40 (P25942)
P43P (p.Pro43Pro) in CD40 (P25942) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P43P (p.Pro43Pro) variant details
- p.Pro43Pro
- rs2085325980
- gnomAD 20-46121897-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available