G83A (p.Gly83Ala) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G83A (p.Gly83Ala) 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 0.29 / 1. The record also includes population frequency data and structural context.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- rs560208112
- ClinGen CA266117378
- ClinVar RCV002608937
- ExAC rs560208112
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available