K6E (p.Lys6Glu) variant of ASXL1 (Polycomb group protein ASXL1)
K6E (p.Lys6Glu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- CADD 26.10
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available