V80M (p.Val80Met) variant of CYP2A6 (Cytochrome P450 2A6)
V80M (p.Val80Met) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V80M (p.Val80Met) variant details
- p.Val80Met
- ExAC rs77233796
- gnomAD rs77233796
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.38
- CADD 19.60
- PolyPhen-2 0.70
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.00092)
- Structural context available