G83D (p.Gly83Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G83D (p.Gly83Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- cosmic curated COSV61733
- ExAC rs560208112
- TOPMed rs560208112
- gnomAD rs560208112
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.52
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available