E31K (p.Glu31Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E31K (p.Glu31Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- cosmic curated COSV61734
- 1000Genomes rs767394342
- ExAC rs767394342
- TOPMed rs767394342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available