R37C (p.Arg37Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
R37C (p.Arg37Cys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- ExAC rs763864468
- TOPMed rs763864468
- gnomAD rs763864468
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.61
- CADD 28.80
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available