R113L (p.Arg113Leu) variant of BRD4 (Bromodomain-containing protein 4)
R113L (p.Arg113Leu) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
R113L (p.Arg113Leu) variant details
- p.Arg113Leu
- rs2145613555
- ClinGen CA404486643
- ClinVar RCV003697527
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.99
- MetaLR 0.19
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.65
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available