L127V (p.Leu127Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
L127V (p.Leu127Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L127V (p.Leu127Val) variant details
- p.Leu127Val
- 1000Genomes rs529524503
- ExAC rs529524503
- gnomAD rs529524503
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- CADD 20.30
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available