N92S (p.Asn92Ser) variant of BRD3 (Bromodomain-containing protein 3)
N92S (p.Asn92Ser) in BRD3 (Bromodomain-containing protein 3) 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.
N92S (p.Asn92Ser) variant details
- p.Asn92Ser
- ESP rs151326744
- ExAC rs151326744
- TOPMed rs151326744
- gnomAD rs151326744
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)