P7S (p.Pro7Ser) variant of BRD2 (Bromodomain-containing protein 2)
P7S (p.Pro7Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs140566548
- ClinGen CA3747951
- cosmic curated COSV10469
- ClinVar RCV004434290
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 2.52
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available