I56T (p.Ile56Thr) variant of TNNI3 (Troponin I, cardiac muscle)
I56T (p.Ile56Thr) 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; Cardiomyopathy, familial restrictive, 1; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- rs545441942
- ClinGen CA021328
- ClinVar RCV000798666
- ClinVar RCV002483314
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy, familial restrictive, 1; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.56
- MetaLR 0.77
- MetaSVM 0.63
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.32
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)