E32V (p.Glu32Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E32V (p.Glu32Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a patient with amyotrophic lateral sclerosis. The record also includes published literature and structural context.
E32V (p.Glu32Val) variant details
- p.Glu32Val
- UniProt VAR 065741
- Uncertain significance
- in a patient with amyotrophic lateral sclerosis
- Missense
- EBI: Variant of uncertain significance (in a patient with amyotrophic lateral sclerosis)
- UniProt: Uncertain significance (in a patient with amyotrophic lateral sclerosis)
- Structural context available
- Cited in: Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. (PMID 21220648)