E100K (p.Glu100Lys) variant of BRD3 (Bromodomain-containing protein 3)
E100K (p.Glu100Lys) 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 0.62 / 1. The record also includes population frequency data.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- NCI-TCGA TCGA novel
- Ensembl rs1830323600
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.50
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)