E40K (p.Glu40Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E40K (p.Glu40Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs2503927998
- ClinGen CA390939774
- ClinVar RCV002296802
- ClinVar RCV005406432
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available