P53R (p.Pro53Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P53R (p.Pro53Arg) 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 Inborn genetic diseases. 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.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- 1000Genomes rs535731167
- TOPMed rs535731167
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.46
- SIFT 0.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available