A14V (p.Ala14Val) variant of BRD3 (Bromodomain-containing protein 3)
A14V (p.Ala14Val) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from ClinVar 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.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- cosmic curated COSV10885
- 1000Genomes rs368976727
- ExAC rs368976727
- TOPMed rs368976727
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.17
- CADD 9.25
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)