E58Q (p.Glu58Gln) variant of CD40 (P25942)
E58Q (p.Glu58Gln) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- gnomAD 20-46122274-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.07
- MetaLR 0.46
- MetaSVM -0.55
- CADD 3.22
- PolyPhen-2 0.01
- SIFT 0.93
- Population evidence available
- Structural context available
- Literature evidence available