R27K (p.Arg27Lys) variant of CYP2A6 (Cytochrome P450 2A6)
R27K (p.Arg27Lys) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- ExAC rs756056996
- gnomAD rs756056996
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- CADD 1.68
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available