E40D (p.Glu40Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E40D (p.Glu40Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- TOPMed rs1889214895
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available