S60C (p.Ser60Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
S60C (p.Ser60Cys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S60C (p.Ser60Cys) variant details
- p.Ser60Cys
- gnomAD 1-201414529-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available