E22K (p.Glu22Lys) variant of BRD4 (Bromodomain-containing protein 4)
E22K (p.Glu22Lys) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- Ensembl rs2047606670
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- MetaLR 0.16
- MetaSVM -0.87
- CADD 26.10
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.786