S24T (p.Ser24Thr) variant of TNNI3 (Troponin I, cardiac muscle)
S24T (p.Ser24Thr) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- rs2085738488
- ClinGen CA407443054
- ClinVar RCV001306062
- ClinVar RCV005403022
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.28
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 0.98
- SIFT 0.13
- MutPred 0.18
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)