P7T (p.Pro7Thr) variant of BRD2 (Bromodomain-containing protein 2)
P7T (p.Pro7Thr) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- 1000Genomes rs140566548
- ESP rs140566548
- ExAC rs140566548
- TOPMed rs140566548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- CADD 24.20
- PolyPhen-2 0.64
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available