A28S (p.Ala28Ser) variant of TNNI3 (Troponin I, cardiac muscle)
A28S (p.Ala28Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs2147285950
- ClinGen CA407442966
- ClinVar RCV003533541
- ClinVar RCV004804652
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.23
- MetaLR 0.20
- MetaSVM -0.73
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.30
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)