S5R (p.Ser5Arg) variant of TNNI3 (Troponin I, cardiac muscle)
S5R (p.Ser5Arg) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs989588363
- ClinGen CA310150545
- ClinVar RCV001182196
- ClinVar RCV001305113
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- MetaLR 0.31
- MetaSVM -0.61
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.44
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)