A49V (p.Ala49Val) variant of BRD2 (Bromodomain-containing protein 2)
A49V (p.Ala49Val) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- cosmic curated COSV66374
- TOPMed rs1778461857
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 7.81
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available