P12S (p.Pro12Ser) variant of BRD2 (Bromodomain-containing protein 2)
P12S (p.Pro12Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- cosmic curated COSV10469
- ExAC rs773585882
- TOPMed rs773585882
- gnomAD rs773585882
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available