S42F (p.Ser42Phe) variant of TNNI3 (Troponin I, cardiac muscle)
S42F (p.Ser42Phe) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs2085732640
- ClinGen CA407442426
- ClinVar RCV001203526
- ClinVar RCV001799048
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.72
- MetaLR 0.81
- MetaSVM 0.80
- CADD 32.00
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- 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)