E123K (p.Glu123Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E123K (p.Glu123Lys) 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 0.38 / 1. The record also includes population frequency data and structural context.
E123K (p.Glu123Lys) variant details
- p.Glu123Lys
- NCI-TCGA Cosmic COSV6173
- cosmic curated COSV61735
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.19
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available