T49M (p.Thr49Met) variant of BRD3 (Bromodomain-containing protein 3)
T49M (p.Thr49Met) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
T49M (p.Thr49Met) variant details
- p.Thr49Met
- TOPMed rs868747664
- gnomAD rs868747664
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.31
- CADD 27.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)