E18K (p.Glu18Lys) variant of BCOR (BCL-6 corepressor)
E18K (p.Glu18Lys) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- Ensembl rs2147331292
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.22
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available