S60G (p.Ser60Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
S60G (p.Ser60Gly) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- gnomAD 1-201414529-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.32
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available