S58P (p.Ser58Pro) variant of TNNI1 (Troponin I, slow skeletal muscle)
S58P (p.Ser58Pro) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S58P (p.Ser58Pro) variant details
- p.Ser58Pro
- TOPMed rs1662700446
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available