S42C (p.Ser42Cys) variant of TNNI3 (Troponin I, cardiac muscle)
S42C (p.Ser42Cys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- TOPMed rs2085732640
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.64
- MetaLR 0.79
- MetaSVM 0.77
- CADD 31.00
- PolyPhen-2 0.65
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available