Q138K (p.Gln138Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
Q138K (p.Gln138Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q138K (p.Gln138Lys) variant details
- p.Gln138Lys
- TOPMed rs1179460384
- gnomAD rs1179460384
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.20
- CADD 26.20
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available