P144L (p.Pro144Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P144L (p.Pro144Leu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P144L (p.Pro144Leu) variant details
- p.Pro144Leu
- rs1457974153
- gnomAD rs1457974153
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available