K58T (p.Lys58Thr) variant of TNNI3 (Troponin I, cardiac muscle)
K58T (p.Lys58Thr) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
K58T (p.Lys58Thr) variant details
- p.Lys58Thr
- rs878853955
- ClinGen CA407441988
- ClinVar RCV001181753
- Ensembl rs878853955
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.49
- PolyPhen-2 0.98
- SIFT 0.36
- EVE 0.18
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)