K108E (p.Lys108Glu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
K108E (p.Lys108Glu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K108E (p.Lys108Glu) variant details
- p.Lys108Glu
- rs2139953551
- ClinGen CA390938943
- ClinVar RCV002122788
- Ensembl rs2139953551
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available