E2D (p.Glu2Asp) variant of BCL10 (B-cell lymphoma/leukemia 10)
E2D (p.Glu2Asp) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- 1000Genomes rs200626032
- ESP rs200626032
- ExAC rs200626032
- TOPMed rs200626032
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 23.80
- PolyPhen-2 0.33
- SIFT 0.35
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)