Q14R (p.Gln14Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
Q14R (p.Gln14Arg) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- 1000Genomes rs1889668361
- TOPMed rs1889668361
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.21
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available