D77H (p.Asp77His) variant of TNNI1 (Troponin I, slow skeletal muscle)
D77H (p.Asp77His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D77H (p.Asp77His) variant details
- p.Asp77His
- gnomAD 1-201413082-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available