R130* (p.Arg130Ter) variant of CYP3A4 (Cytochrome P450 3A4)
R130* (p.Arg130Ter) in CYP3A4 (Cytochrome P450 3A4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R130* (p.Arg130Ter) variant details
- p.Arg130Ter
- ExAC rs778013004
- TOPMed rs778013004
- gnomAD rs778013004
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 29.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available