E47K (p.Glu47Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E47K (p.Glu47Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- ExAC rs774762591
- TOPMed rs774762591
- gnomAD rs774762591
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.80
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available