V5I (p.Val5Ile) variant of BRD2 (Bromodomain-containing protein 2)
V5I (p.Val5Ile) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs1189311115
- gnomAD 6-32969288-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available