E143K (p.Glu143Lys) variant of BRD3 (Bromodomain-containing protein 3)
E143K (p.Glu143Lys) in BRD3 (Bromodomain-containing protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
E143K (p.Glu143Lys) variant details
- p.Glu143Lys
- TOPMed rs1830298476
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.6e-05)