E97K (p.Glu97Lys) variant of CYP2A6 (Cytochrome P450 2A6)
E97K (p.Glu97Lys) in CYP2A6 (Cytochrome P450 2A6) is a missense change. 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.
E97K (p.Glu97Lys) variant details
- p.Glu97Lys
- 1000Genomes rs145308399
- ESP rs145308399
- ExAC rs145308399
- TOPMed rs145308399
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available