T103M (p.Thr103Met) variant of BRD4 (Bromodomain-containing protein 4)
T103M (p.Thr103Met) 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 0.54 / 1. The record also includes population frequency data and structural context.
T103M (p.Thr103Met) variant details
- p.Thr103Met
- rs200203571
- ClinGen CA9265661
- ClinVar RCV003082996
- ESP rs200203571
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- MetaLR 0.17
- MetaSVM -0.57
- CADD 25.80
- PolyPhen-2 0.89
- 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 2.4e-05)
- Structural context available