R63* (p.Arg63Ter) variant of TNNI3 (Troponin I, cardiac muscle)
R63* (p.Arg63Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R63* (p.Arg63Ter) variant details
- p.Arg63Ter
- rs1286340820
- ClinGen CA407441923
- ClinVar RCV003749272
- gnomAD rs1286340820
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available