P46T (p.Pro46Thr) variant of BRD2 (Bromodomain-containing protein 2)
P46T (p.Pro46Thr) in BRD2 (Bromodomain-containing protein 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- rs1235563749
- gnomAD 6-32971615-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 6.93
- Most common in the South Asian population (allele frequency 5.7e-05)
- Structural context available
- Literature evidence available