T51I (p.Thr51Ile) variant of TNNI3 (Troponin I, cardiac muscle)
T51I (p.Thr51Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs1366283106
- ClinGen CA407442118
- ClinVar RCV001189767
- ClinVar RCV005762196
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.57
- MetaLR 0.59
- MetaSVM -0.02
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)