R74C (p.Arg74Cys) variant of BCOR (BCL-6 corepressor)
R74C (p.Arg74Cys) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- cosmic curated COSV60719
- ExAC rs747350059
- gnomAD rs747350059
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.72
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available