A17V (p.Ala17Val) variant of BRD2 (Bromodomain-containing protein 2)
A17V (p.Ala17Val) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- TOPMed rs927977214
- gnomAD rs927977214
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available