R134* (p.Arg134Ter) variant of NOD1 (Q9Y239)
R134* (p.Arg134Ter) in NOD1 (Q9Y239) 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 0.55 / 1. The record also includes population frequency data and structural context.
R134* (p.Arg134Ter) variant details
- p.Arg134Ter
- rs371807148
- ESP rs371807148
- ExAC rs371807148
- TOPMed rs371807148
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available