R34C (p.Arg34Cys) variant of BRD2 (Bromodomain-containing protein 2)
R34C (p.Arg34Cys) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs1490593779
- gnomAD 6-32971635-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 7.59
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available