I115V (p.Ile115Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
I115V (p.Ile115Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, 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.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- rs1483358102
- ClinGen CA390938858
- ClinVar RCV002667604
- TOPMed rs1483358102
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.09
- CADD 15.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available