P12L (p.Pro12Leu) variant of BRD2 (Bromodomain-containing protein 2)
P12L (p.Pro12Leu) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs864309591
- ClinGen CA248925
- ClinVar RCV000202731
- TOPMed rs864309591
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.14
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available