R68T (p.Arg68Thr) variant of BRD4 (Bromodomain-containing protein 4)
R68T (p.Arg68Thr) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R68T (p.Arg68Thr) variant details
- p.Arg68Thr
- rs1002212228
- ClinGen CA305783078
- ClinVar RCV003665285
- gnomAD rs1002212228
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.80
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available