A154V (p.Ala154Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A154V (p.Ala154Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A154V (p.Ala154Val) variant details
- p.Ala154Val
- rs867773884
- ClinGen CA266104614
- ClinVar RCV002280259
- TOPMed rs867773884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available