I141T (p.Ile141Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
I141T (p.Ile141Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
I141T (p.Ile141Thr) variant details
- p.Ile141Thr
- ExAC rs762219159
- TOPMed rs762219159
- gnomAD rs762219159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available