E34G (p.Glu34Gly) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E34G (p.Glu34Gly) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD rs967219326
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.06
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available