R10S (p.Arg10Ser) variant of TNNI3 (Troponin I, cardiac muscle)
R10S (p.Arg10Ser) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- rs2085738998
- ClinGen CA407443247
- ClinVar RCV001180476
- ClinVar RCV004803469
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.93
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)