E27K (p.Glu27Lys) variant of BCOR (BCL-6 corepressor)
E27K (p.Glu27Lys) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- NCI-TCGA Cosmic COSV6071
- cosmic curated COSV60712
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 0.25
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available