G23D (p.Gly23Asp) variant of BRD2 (Bromodomain-containing protein 2)
G23D (p.Gly23Asp) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs55650502
- ClinGen CA3748031
- cosmic curated COSV99058
- ClinVar RCV000883048
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.51
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.071)
- Structural context available