L62V (p.Leu62Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
L62V (p.Leu62Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- gnomAD 1-201414523-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.85
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available