E34D (p.Glu34Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E34D (p.Glu34Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- ExAC rs769902986
- gnomAD rs769902986
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.62
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available