L59H (p.Leu59His) variant of TNNI1 (Troponin I, slow skeletal muscle)
L59H (p.Leu59His) 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.
L59H (p.Leu59His) variant details
- p.Leu59His
- gnomAD 1-201414531-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.80
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available