H8Y (p.His8Tyr) variant of BRD2 (Bromodomain-containing protein 2)
H8Y (p.His8Tyr) in BRD2 (Bromodomain-containing protein 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- rs377684930
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ESP rs377684930
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.08
- CADD 19.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available