R3C (p.Arg3Cys) variant of CD40 (P25942)
R3C (p.Arg3Cys) in CD40 (P25942) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- NCI-TCGA TCGA novel
- TOPMed rs1600650328
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.64
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available