E32D (p.Glu32Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E32D (p.Glu32Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. 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.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- ExAC rs761771538
- gnomAD rs761771538
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.93
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available