R14L (p.Arg14Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
R14L (p.Arg14Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- ExAC rs747286830
- TOPMed rs747286830
- gnomAD rs747286830
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.86
- CADD 28.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available