R29C (p.Arg29Cys) variant of CYP2B6 (Cytochrome P450 2B6)
R29C (p.Arg29Cys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- 1000Genomes rs33926104
- ESP rs33926104
- ExAC rs33926104
- TOPMed rs33926104
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.03
- MetaLR 0.00
- MetaSVM -0.93
- CADD 12.90
- PolyPhen-2 0.25
- SIFT 0.19
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available