Q42H (p.Gln42His) variant of CD40 (P25942)
Q42H (p.Gln42His) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- gnomAD 20-46121894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.31
- MetaLR 0.28
- MetaSVM -0.52
- CADD 3.94
- PolyPhen-2 0.67
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available