S44T (p.Ser44Thr) variant of TNNI3 (Troponin I, cardiac muscle)
S44T (p.Ser44Thr) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- rs2147285302
- ClinGen CA407442413
- ClinVar RCV002385420
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.23
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.83
- SIFT 0.23
- EVE 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available