E14A (p.Glu14Ala) variant of BRD2 (Bromodomain-containing protein 2)
E14A (p.Glu14Ala) 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 0.15 / 1. The record also includes population frequency data and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- rs748849886
- ClinGen CA3748026
- ClinVar RCV004200365
- ExAC rs748849886
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available