A10V (p.Ala10Val) variant of BRD3 (Bromodomain-containing protein 3)
A10V (p.Ala10Val) in BRD3 (Bromodomain-containing protein 3) 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 0.26 / 1. The record also includes population frequency data.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs201355820
- ClinGen CA5317114
- cosmic curated COSV10588
- ClinVar RCV004434296
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.11
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00097)