Q53* (p.Gln53Ter) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q53* (p.Gln53Ter) in TNNI1 (Troponin I, slow skeletal muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q53* (p.Gln53Ter) variant details
- p.Gln53Ter
- Ensembl rs1662700950
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available