E66K (p.Glu66Lys) variant of CD40 (P25942)
E66K (p.Glu66Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.46
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available