E74K (p.Glu74Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E74K (p.Glu74Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- gnomAD 1-201413091-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available