T120I (p.Thr120Ile) variant of BCL11B (B-cell lymphoma/leukemia 11B)
T120I (p.Thr120Ile) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T120I (p.Thr120Ile) variant details
- p.Thr120Ile
- ExAC rs750062446
- TOPMed rs750062446
- gnomAD rs750062446
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.28
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available