L45V (p.Leu45Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
L45V (p.Leu45Val) 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.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- gnomAD 1-201414574-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.88
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available