R63S (p.Arg63Ser) variant of BCOR (BCL-6 corepressor)
R63S (p.Arg63Ser) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R63S (p.Arg63Ser) variant details
- p.Arg63Ser
- Ensembl rs764471817
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.38
- CADD 17.90
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available