S58F (p.Ser58Phe) variant of TNNI1 (Troponin I, slow skeletal muscle)
S58F (p.Ser58Phe) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- gnomAD 1-201414534-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.83
- CADD 27.30
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available