P23H (p.Pro23His) variant of BRD3 (Bromodomain-containing protein 3)
P23H (p.Pro23His) in BRD3 (Bromodomain-containing protein 3) 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 0.48 / 1. The record also includes population frequency data.
P23H (p.Pro23His) variant details
- p.Pro23His
- rs200460874
- NCI-TCGA Cosmic COSV5770
- cosmic curated COSV57708
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.28
- CADD 25.20
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)