I114V (p.Ile114Val) variant of BRD3 (Bromodomain-containing protein 3)
I114V (p.Ile114Val) 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 0.35 / 1. The record also includes population frequency data.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- ESP rs149142628
- TOPMed rs149142628
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)