S20I (p.Ser20Ile) variant of TNNI1 (Troponin I, slow skeletal muscle)
S20I (p.Ser20Ile) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD 1-201414648-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.77
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available