Q42E (p.Gln42Glu) variant of CD40 (P25942)
Q42E (p.Gln42Glu) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q42E (p.Gln42Glu) variant details
- p.Gln42Glu
- gnomAD 20-46121892-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.87
- CADD 15.00
- PolyPhen-2 0.16
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available