L70P (p.Leu70Pro) variant of BCOR (BCL-6 corepressor)
L70P (p.Leu70Pro) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- TOPMed rs1317086308
- gnomAD rs1317086308
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.6e-05)
- Structural context available