S58Y (p.Ser58Tyr) variant of TNNI1 (Troponin I, slow skeletal muscle)
S58Y (p.Ser58Tyr) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S58Y (p.Ser58Tyr) variant details
- p.Ser58Tyr
- gnomAD 1-201414534-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.81
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available