C38R (p.Cys38Arg) variant of CD40 (P25942)
C38R (p.Cys38Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C38R (p.Cys38Arg) variant details
- p.Cys38Arg
- gnomAD 20-46121880-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.93
- MetaLR 1.00
- MetaSVM 0.87
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available