N45S (p.Asn45Ser) variant of CYP2A6 (Cytochrome P450 2A6)
N45S (p.Asn45Ser) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- gnomAD rs1967197704
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available