L2R (p.Leu2Arg) variant of BRD2 (Bromodomain-containing protein 2)
L2R (p.Leu2Arg) 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.
L2R (p.Leu2Arg) variant details
- p.Leu2Arg
- TOPMed rs1345703139
- gnomAD rs1345703139
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- CADD 27.50
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available