L57P (p.Leu57Pro) variant of TNNI1 (Troponin I, slow skeletal muscle)
L57P (p.Leu57Pro) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- gnomAD 1-201414537-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.84
- CADD 28.70
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available