S27C (p.Ser27Cys) variant of BRD3 (Bromodomain-containing protein 3)
S27C (p.Ser27Cys) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- NCI-TCGA TCGA novel
- Ensembl rs1830344140
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.11
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)