K55R (p.Lys55Arg) variant of BRD4 (Bromodomain-containing protein 4)
K55R (p.Lys55Arg) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K55R (p.Lys55Arg) variant details
- p.Lys55Arg
- ESP rs368453549
- TOPMed rs368453549
- gnomAD rs368453549
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- MetaLR 0.03
- MetaSVM -1.08
- CADD 21.50
- SIFT 0.79
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.502