P23L (p.Pro23Leu) variant of BRD3 (Bromodomain-containing protein 3)
P23L (p.Pro23Leu) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs200460874
- NCI-TCGA Cosmic COSV5770
- cosmic curated COSV57701
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.29
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)