P136L (p.Pro136Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P136L (p.Pro136Leu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P136L (p.Pro136Leu) variant details
- p.Pro136Leu
- TOPMed rs1483630067
- gnomAD rs1483630067
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available