N9D (p.Asn9Asp) variant of BRD2 (Bromodomain-containing protein 2)
N9D (p.Asn9Asp) in BRD2 (Bromodomain-containing protein 2) 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 0.21 / 1. The record also includes population frequency data and structural context.
N9D (p.Asn9Asp) variant details
- p.Asn9Asp
- rs775207207
- ClinGen CA3747956
- cosmic curated COSV66373
- ClinVar RCV004323012
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available