R80* (p.Arg80Ter) variant of TNNI1 (Troponin I, slow skeletal muscle)
R80* (p.Arg80Ter) in TNNI1 (Troponin I, slow skeletal muscle) 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 0.74 / 1. The record also includes population frequency data and structural context.
R80* (p.Arg80Ter) variant details
- p.Arg80Ter
- rs1159048123
- gnomAD rs1159048123
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available