E111K (p.Glu111Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E111K (p.Glu111Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs773657707
- NCI-TCGA Cosmic COSV6173
- cosmic curated COSV61735
- ExAC rs773657707
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.21
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available