V116M (p.Val116Met) variant of CYP2A6 (Cytochrome P450 2A6)
V116M (p.Val116Met) 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 0.38 / 1. The record also includes population frequency data and structural context.
V116M (p.Val116Met) variant details
- p.Val116Met
- rs376782364
- ESP rs376782364
- ExAC rs376782364
- TOPMed rs376782364
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 11.80
- PolyPhen-2 0.47
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available