G30E (p.Gly30Glu) variant of BRD2 (Bromodomain-containing protein 2)
G30E (p.Gly30Glu) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a glioblastoma multiforme sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- NCI-TCGA TCGA novel
- UniProt VAR 041904
- Uncertain significance
- in a glioblastoma multiforme sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.51
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in a glioblastoma multiforme sample)
- UniProt: Uncertain significance (in a glioblastoma multiforme sample)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)