L62P (p.Leu62Pro) variant of TNNI1 (Troponin I, slow skeletal muscle)
L62P (p.Leu62Pro) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- gnomAD 1-201414522-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.99
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available