E41K (p.Glu41Lys) variant of BRD2 (Bromodomain-containing protein 2)
E41K (p.Glu41Lys) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- ExAC rs778053233
- TOPMed rs778053233
- gnomAD rs778053233
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available