S60I (p.Ser60Ile) variant of TNNI1 (Troponin I, slow skeletal muscle)
S60I (p.Ser60Ile) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- gnomAD 1-201414528-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.42
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available