L62R (p.Leu62Arg) variant of TNNI1 (Troponin I, slow skeletal muscle)
L62R (p.Leu62Arg) in TNNI1 (Troponin I, slow skeletal muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L62R (p.Leu62Arg) variant details
- p.Leu62Arg
- gnomAD 1-201414521-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available