D23E (p.Asp23Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D23E (p.Asp23Glu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- ExAC rs200739087
- TOPMed rs200739087
- gnomAD rs200739087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.84
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00014)
- Structural context available