L4R (p.Leu4Arg) variant of CD40 (P25942)
L4R (p.Leu4Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- ExAC rs746583774
- gnomAD rs746583774
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.60
- CADD 22.50
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available