M48T (p.Met48Thr) variant of BRD2 (Bromodomain-containing protein 2)
M48T (p.Met48Thr) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes population frequency data and structural context.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- rs1161629101
- ClinGen CA363600343
- ClinVar RCV004434288
- gnomAD rs1161629101
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available