E34K (p.Glu34Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E34K (p.Glu34Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- cosmic curated COSV10059
- gnomAD rs1889216119
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.16
- CADD 24.00
- PolyPhen-2 0.64
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available