V5L (p.Val5Leu) variant of BRD2 (Bromodomain-containing protein 2)
V5L (p.Val5Leu) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 6-32969288-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 16.50
- Most common in the Middle Eastern population (allele frequency 0.00051)
- Structural context available
- Literature evidence available