R10G (p.Arg10Gly) variant of TNNI3 (Troponin I, cardiac muscle)
R10G (p.Arg10Gly) 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 0.36 / 1. The record also includes published literature and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs2085739021
- ClinGen CA407443267
- ClinVar RCV001184358
- ClinVar RCV006557143
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.05
- MetaLR 0.18
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.43
- MutPred 0.11
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)