R55H (p.Arg55His) variant of TNNI1 (Troponin I, slow skeletal muscle)
R55H (p.Arg55His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- ExAC rs747617955
- TOPMed rs747617955
- gnomAD rs747617955
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available