E16D (p.Glu16Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
E16D (p.Glu16Asp) 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; BCL11B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- rs1027891253
- ClinGen CA266486928
- ClinVar RCV002766779
- ClinVar RCV004536399
- Uncertain significance
- not provided; BCL11B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.04
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; BCL11B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available