K30R (p.Lys30Arg) variant of CYP2A6 (Cytochrome P450 2A6)
K30R (p.Lys30Arg) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- ExAC rs767380497
- TOPMed rs767380497
- gnomAD rs767380497
- Missense
- Variant Prioritization Score for Impact Estimate 0.0611
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available