G56V (p.Gly56Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
G56V (p.Gly56Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- gnomAD 1-201414540-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available