H24L (p.His24Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
H24L (p.His24Leu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- 1000Genomes rs754532599
- ExAC rs754532599
- TOPMed rs754532599
- gnomAD rs754532599
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.15
- CADD 21.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available