R55L (p.Arg55Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
R55L (p.Arg55Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- gnomAD 1-201414543-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.26
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available