M54K (p.Met54Lys) variant of CYP2A6 (Cytochrome P450 2A6)
M54K (p.Met54Lys) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M54K (p.Met54Lys) variant details
- p.Met54Lys
- ExAC rs749484240
- TOPMed rs749484240
- gnomAD rs749484240
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.31
- CADD 21.20
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available