G44G (p.Gly44Gly) variant of CD40 (P25942)
G44G (p.Gly44Gly) in CD40 (P25942) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G44G (p.Gly44Gly) variant details
- p.Gly44Gly
- rs1323500867
- gnomAD 20-46122234-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available