P16L (p.Pro16Leu) variant of BRD3 (Bromodomain-containing protein 3)
P16L (p.Pro16Leu) 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 0.35 / 1. The record also includes population frequency data.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs200385726
- ClinGen CA201053673
- ClinVar RCV004225609
- ExAC rs200385726
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAUR population (allele frequency 0.11)