R32A (p.Arg32Ala) variant of BRD2 (Bromodomain-containing protein 2)
R32A (p.Arg32Ala) in BRD2 (Bromodomain-containing protein 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R32A (p.Arg32Ala) variant details
- p.Arg32Ala
- rs1260167100
- gnomAD 6-32969291-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 14.10
- Most common in the East Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available