R79L (p.Arg79Leu) variant of BCOR (BCL-6 corepressor)
R79L (p.Arg79Leu) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R79L (p.Arg79Leu) variant details
- p.Arg79Leu
- cosmic curated COSV60720
- 1000Genomes rs746635655
- ExAC rs746635655
- gnomAD rs746635655
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available