R841H (p.Arg841His) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R841H (p.Arg841His) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with speech delay, dysmorphic facies, and t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R841H (p.Arg841His) variant details
- p.Arg841His
- NCI-TCGA Cosmic COSV6173
- cosmic curated COSV61738
- Likely pathogenic
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.34
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual developmental disorder with speech delay, dysmorphi)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available