L62M (p.Leu62Met) variant of TNNI1 (Troponin I, slow skeletal muscle)
L62M (p.Leu62Met) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L62M (p.Leu62Met) variant details
- p.Leu62Met
- gnomAD 1-201414523-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.86
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available