Y40C (p.Tyr40Cys) variant of BRD2 (Bromodomain-containing protein 2)
Y40C (p.Tyr40Cys) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- 1000Genomes rs200307380
- ExAC rs200307380
- TOPMed rs200307380
- gnomAD rs200307380
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.18
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available