R55C (p.Arg55Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
R55C (p.Arg55Cys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- 1000Genomes rs545684730
- ExAC rs545684730
- TOPMed rs545684730
- gnomAD rs545684730
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available