T120N (p.Thr120Asn) variant of BCL11B (B-cell lymphoma/leukemia 11B)
T120N (p.Thr120Asn) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T120N (p.Thr120Asn) variant details
- p.Thr120Asn
- ExAC rs750062446
- TOPMed rs750062446
- gnomAD rs750062446
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.21
- CADD 25.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available