I19V (p.Ile19Val) variant of TNNI3 (Troponin I, cardiac muscle)
I19V (p.Ile19Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- rs755862334
- ClinGen CA051852
- ClinVar RCV000694571
- ClinVar RCV001191348
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.92
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)