R101* (p.Arg101Ter) variant of CYP2A6 (Cytochrome P450 2A6)
R101* (p.Arg101Ter) in CYP2A6 (Cytochrome P450 2A6) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R101* (p.Arg101Ter) variant details
- p.Arg101Ter
- rs199545200
- 1000Genomes rs199545200
- ExAC rs199545200
- gnomAD rs199545200
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:JPT population (allele frequency 0.0051)
- Structural context available