M17I (p.Met17Ile) variant of BRD4 (Bromodomain-containing protein 4)
M17I (p.Met17Ile) in BRD4 (Bromodomain-containing protein 4) 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 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M17I (p.Met17Ile) variant details
- p.Met17Ile
- cosmic curated COSV10584
- NCI-TCGA TCGA novel
- ExAC rs763841109
- TOPMed rs763841109
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- MetaLR 0.09
- MetaSVM -1.04
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.395