A158V (p.Ala158Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A158V (p.Ala158Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual developmental disorder with speech delay, dysmorphic facies, and t. The record also includes structural context.
A158V (p.Ala158Val) variant details
- p.Ala158Val
- rs2503834681
- ClinGen CA390937445
- ClinVar RCV002300977
- ClinVar RCV004729147
- Conflicting interpretations
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Intellectual developmental disorder with speech delay, dysmorphi)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available