R83Q (p.Arg83Gln) variant of BCOR (BCL-6 corepressor)
R83Q (p.Arg83Gln) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R83Q (p.Arg83Gln) variant details
- p.Arg83Gln
- cosmic curated COSV10590
- Ensembl rs1321289860
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available