L43V (p.Leu43Val) variant of BCOR (BCL-6 corepressor)
L43V (p.Leu43Val) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- TOPMed rs1037383063
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.15
- CADD 24.30
- Most common in the HGDP:MANDENKA population (allele frequency 0.037)
- Structural context available