A17T (p.Ala17Thr) variant of BRD2 (Bromodomain-containing protein 2)
A17T (p.Ala17Thr) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs1371221120
- gnomAD 6-32969249-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available