p.Ala42dup variant of BRD2 (Bromodomain-containing protein 2)
p.Ala42dup in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala42dup variant details
- rs756580191
- gnomAD 6-32971601-C-CGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 10.00
- Most common in the Non-Finnish European population (allele frequency 5.2e-06)
- Structural context available
- Literature evidence available