D122E (p.Asp122Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D122E (p.Asp122Glu) 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 0.08 / 1. The record also includes population frequency data and structural context.
D122E (p.Asp122Glu) variant details
- p.Asp122Glu
- ExAC rs757013819
- TOPMed rs757013819
- gnomAD rs757013819
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0774
- REVEL 0.07
- CADD 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available