A65T (p.Ala65Thr) variant of BRD3 (Bromodomain-containing protein 3)
A65T (p.Ala65Thr) 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 0.44 / 1. The record also includes population frequency data.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs200965087
- 1000Genomes rs200965087
- ExAC rs200965087
- TOPMed rs200965087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.20
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)