E114D (p.Glu114Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E114D (p.Glu114Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E114D (p.Glu114Asp) variant details
- p.Glu114Asp
- gnomAD rs1293744183
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available