K838R (p.Lys838Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
K838R (p.Lys838Arg) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with speech delay, dysmorphic facies, and t. The record also includes structural context.
K838R (p.Lys838Arg) variant details
- p.Lys838Arg
- rs2503636087
- ClinGen CA390933045
- ClinVar RCV002468768
- Likely pathogenic
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Missense
- ClinVar: Likely pathogenic (Intellectual developmental disorder with speech delay, dysmorphi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available