E45K (p.Glu45Lys) variant of CD3D (P04234)
E45K (p.Glu45Lys) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD 11-118340516-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0965
- REVEL 0.10
- CADD 2.29
- PolyPhen-2 0.16
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available