D94E (p.Asp94Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D94E (p.Asp94Glu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D94E (p.Asp94Glu) variant details
- p.Asp94Glu
- rs570461424
- 1000Genomes rs570461424
- ExAC rs570461424
- TOPMed rs570461424
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 17.20
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available