V68M (p.Val68Met) variant of CYP2A6 (Cytochrome P450 2A6)
V68M (p.Val68Met) 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 0.48 / 1. The record also includes population frequency data and structural context.
V68M (p.Val68Met) variant details
- p.Val68Met
- rs143690364
- 1000Genomes rs143690364
- ESP rs143690364
- ExAC rs143690364
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.40
- CADD 19.50
- PolyPhen-2 0.93
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available