S24F (p.Ser24Phe) variant of TNNI3 (Troponin I, cardiac muscle)
S24F (p.Ser24Phe) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- rs1056846497
- ClinGen CA310150385
- ClinVar RCV001190554
- ClinVar RCV004803542
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.48
- MetaLR 0.82
- MetaSVM 0.83
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)