P46S (p.Pro46Ser) variant of BRD2 (Bromodomain-containing protein 2)
P46S (p.Pro46Ser) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- rs1172889106
- gnomAD 6-32971617-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 8.09
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available