H8D (p.His8Asp) variant of BRD2 (Bromodomain-containing protein 2)
H8D (p.His8Asp) 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 0.42 / 1. The record also includes population frequency data and structural context.
H8D (p.His8Asp) variant details
- p.His8Asp
- rs377684930
- NCI-TCGA Cosmic COSV1008
- ESP rs377684930
- ExAC rs377684930
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.20
- CADD 20.80
- PolyPhen-2 0.23
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available