S60R (p.Ser60Arg) variant of TNNI1 (Troponin I, slow skeletal muscle)
S60R (p.Ser60Arg) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- gnomAD 1-201414527-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.46
- CADD 2.00
- PolyPhen-2 0.04
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available