E33K (p.Glu33Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E33K (p.Glu33Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- 1000Genomes rs373597502
- ESP rs373597502
- ExAC rs373597502
- TOPMed rs373597502
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.92
- CADD 24.70
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available