S26R (p.Ser26Arg) variant of BCOR (BCL-6 corepressor)
S26R (p.Ser26Arg) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- NCI-TCGA TCGA novel
- ExAC rs778509180
- gnomAD rs778509180
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.09
- CADD 20.50
- PolyPhen-2 0.08
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:KALASH population (allele frequency 0.043)
- Structural context available