E66Q (p.Glu66Gln) variant of CD40 (P25942)
E66Q (p.Glu66Gln) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- gnomAD rs1208355184
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.49
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available