G18A (p.Gly18Ala) variant of BRD2 (Bromodomain-containing protein 2)
G18A (p.Gly18Ala) 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 0.39 / 1. The record also includes population frequency data and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs776906957
- ClinGen CA3748028
- ClinVar RCV004129334
- ExAC rs776906957
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.14
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available