D124E (p.Asp124Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D124E (p.Asp124Glu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- rs912527521
- ClinGen CA390938732
- ClinVar RCV003230029
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.07
- CADD 9.59
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available