E96K (p.Glu96Lys) variant of CYP2A6 (Cytochrome P450 2A6)
E96K (p.Glu96Lys) in CYP2A6 (Cytochrome P450 2A6) 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 0.51 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available