S22C (p.Ser22Cys) variant of CYP2A6 (Cytochrome P450 2A6)
S22C (p.Ser22Cys) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- TOPMed rs1967199640
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.32
- CADD 21.90
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available