E32K (p.Glu32Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E32K (p.Glu32Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- TOPMed rs1376458085
- gnomAD rs1376458085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in a patient with amyotrophic lateral sclerosis)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available