I41N (p.Ile41Asn) variant of TNNI3 (Troponin I, cardiac muscle)
I41N (p.Ile41Asn) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I41N (p.Ile41Asn) variant details
- p.Ile41Asn
- rs2085732683
- ClinGen CA407442446
- ClinVar RCV001178001
- ClinVar RCV004006431
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.90
- MetaLR 0.88
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)