I41V (p.Ile41Val) variant of TNNI3 (Troponin I, cardiac muscle)
I41V (p.Ile41Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- rs2515502445
- ClinGen CA407442462
- ClinVar RCV003017469
- ClinVar RCV006546237
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.55
- MetaLR 0.81
- MetaSVM 0.71
- CADD 25.50
- PolyPhen-2 0.66
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)