L51S (p.Leu51Ser) variant of BCOR (BCL-6 corepressor)
L51S (p.Leu51Ser) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L51S (p.Leu51Ser) variant details
- p.Leu51Ser
- gnomAD rs1316473292
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.31
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available