E44K (p.Glu44Lys) variant of BCOR (BCL-6 corepressor)
E44K (p.Glu44Lys) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- Ensembl rs1569161281
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.33
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available