N54S (p.Asn54Ser) variant of BCOR (BCL-6 corepressor)
N54S (p.Asn54Ser) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- TOPMed rs1435258487
- gnomAD rs1435258487
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.05
- CADD 7.35
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available