D90E (p.Asp90Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D90E (p.Asp90Glu) 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 0.21 / 1. The record also includes population frequency data and structural context.
D90E (p.Asp90Glu) variant details
- p.Asp90Glu
- rs2139953786
- ClinGen CA390939150
- ClinVar RCV001889802
- Ensembl rs2139953786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.04
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available